papers.bib

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@ARTICLE{23andMe2012,
  author = {23andMe},
  title = {{23andMe Privacy Statement http://www.23andme.com/about/privacy/}},
  journal = {23andMe Homepage},
  year = {2012},
  howpublished = {\url{http://www.23andme.com/about/privacy/}}
}

@ARTICLE{23andMe2011,
  author = {23andMe},
  title = {{23andMe 2011 State of the Database Address}},
  journal = {The Spittoon http://spittoon.23andme.com/2011/06/15/23andme-2011-state-of-the-database-address/},
  year = {2011},
  number = {June 15},
  howpublished = {\url{http://spittoon.23andme.com/2011/06/15/23andme-2011-state-of-the-database-address/}},
  type = {Blog}
}

@ARTICLE{prostatecancer,
  author = {Abate-Shen, Cory and Shen, Michael M.},
  title = {Molecular genetics of prostate cancer},
  journal = {Genes \& Development},
  year = {2000},
  volume = {14},
  pages = {2410-2434},
  number = {19},
  doi = {10.1101/gad.819500},
  eprint = {http://genesdev.cshlp.org/content/14/19/2410.full.pdf+html},
  url = {http://genesdev.cshlp.org/content/14/19/2410.short}
}

@ARTICLE{Ball24072012,
  author = {Ball, Madeleine P. and Thakuria, Joseph V. and Zaranek, Alexander
	Wait and Clegg, Tom and Rosenbaum, Abraham M. and Wu, Xiaodi and
	Angrist, Misha and Bhak, Jong and Bobe, Jason and Callow, Matthew
	J. and Cano, Carlos and Chou, Michael F. and Chung, Wendy K. and
	Douglas, Shawn M. and Estep, Preston W. and Gore, Athurva and Hulick,
	Peter and Labarga, Alberto and Lee, Je-Hyuk and Lunshof, Jeantine
	E. and Kim, Byung Chul and Kim, Jong-Il and Li, Zhe and Murray, Michael
	F. and Nilsen, Geoffrey B. and Peters, Brock A. and Raman, Anugraha
	M. and Rienhoff, Hugh Y. and Robasky, Kimberly and Wheeler, Matthew
	T. and Vandewege, Ward and Vorhaus, Daniel B. and Yang, Joyce L.
	and Yang, Luhan and Aach, John and Ashley, Euan A. and Drmanac, Radoje
	and Kim, Seong-Jin and Li, Jin Billy and Peshkin, Leonid and Seidman,
	Christine E. and Seo, Jeong-Sun and Zhang, Kun and Rehm, Heidi L.
	and Church, George M.},
  title = {A public resource facilitating clinical use of genomes},
  journal = {Proceedings of the National Academy of Sciences},
  year = {2012},
  volume = {109},
  pages = {11920-11927},
  number = {30},
  abstract = {Rapid advances in DNA sequencing promise to enable new diagnostics
	and individualized therapies. Achieving personalized medicine, however,
	will require extensive research on highly reidentifiable, integrated
	datasets of genomic and health information. To assist with this,
	participants in the Personal Genome Project choose to forgo privacy
	via our institutional review board- approved “open consent” process.
	The contribution of public data and samples facilitates both scientific
	discovery and standardization of methods. We present our findings
	after enrollment of more than 1,800 participants, including whole-genome
	sequencing of 10 pilot participant genomes (the PGP-10). We introduce
	the Genome-Environment-Trait Evidence (GET-Evidence) system. This
	tool automatically processes genomes and prioritizes both published
	and novel variants for interpretation. In the process of reviewing
	the presumed healthy PGP-10 genomes, we find numerous literature
	references implying serious disease. Although it is sometimes impossible
	to rule out a late-onset effect, stringent evidence requirements
	can address the high rate of incidental findings. To that end we
	develop a peer production system for recording and organizing variant
	evaluations according to standard evidence guidelines, creating a
	public forum for reaching consensus on interpretation of clinically
	relevant variants. Genome analysis becomes a two-step process: using
	a prioritized list to record variant evaluations, then automatically
	sorting reviewed variants using these annotations. Genome data, health
	and trait information, participant samples, and variant interpretations
	are all shared in the public domain—we invite others to review
	our results using our participant samples and contribute to our interpretations.
	We offer our public resource and methods to further personalized
	medical research.},
  doi = {10.1073/pnas.1201904109},
  eprint = {http://www.pnas.org/content/109/30/11920.full.pdf+html},
  url = {http://www.pnas.org/content/109/30/11920.abstract}
}

@ARTICLE{Bove2013,
  author = {Bove, Riley and Secor, Elizabeth and Healy, Brian C. and Musallam,
	Alexander and Vaughan, Timothy and Glanz, Bonnie I. and Greeke, Emily
	and Weiner, Howard L. and Chitnis, Tanuja and Wicks, Paul and {De
	Jager}, Philip L.},
  title = {Evaluation of an online platform for multiple sclerosis research:
	patient description, validation of severity scale, and exploration
	of BMI effects on disease course.},
  journal = {PLoS One},
  year = {2013},
  volume = {8},
  pages = {e59707},
  number = {3},
  abstract = {To assess the potential of an online platform, PatientsLikeMe.com
	(PLM), for research in multiple sclerosis (MS). An investigation
	of the role of body mass index (BMI) on MS disease course was conducted
	to illustrate the utility of the platform.First, we compared the
	demographic characteristics of subjects from PLM and from a regional
	MS center. Second, we validated PLM's patient-reported outcome measure
	(MS Rating Scale, MSRS) against standard physician-rated tools. Finally,
	we analyzed the relation of BMI to the MSRS measure.Compared with
	4,039 MS Center patients, the 10,255 PLM members were younger, more
	educated, and less often male and white. Disease course was more
	often relapsing remitting, with younger symptom onset and shorter
	disease duration. Differences were significant because of large sample
	sizes but small in absolute terms. MSRS scores for 121 MS Center
	patients revealed acceptable agreement between patient-derived and
	physician-derived composite scores (weighted kappa = 0.46). The Walking
	domain showed the highest weighted kappa (0.73) and correlation (rs
	= 0.86) between patient and physician scores. Additionally, there
	were good correlations between the patient-reported MSRS composite
	and walking scores and physician-derived measures: Expanded Disability
	Status Scale (composite rs = 0.61, walking rs = 0.74), Timed 25 Foot
	Walk (composite rs = 0.70, walking rs = 0.69), and Ambulation Index
	(composite rs = 0.81, walking rs = 0.84). Finally, using PLM data,
	we found a modest correlation between BMI and cross-sectional MSRS
	(rho = 0.17) and no association between BMI and disease course.The
	PLM population is comparable to a clinic population, and its patient-reported
	MSRS is correlated with existing clinical instruments. Thus, this
	online platform may provide a venue for MS investigations with unique
	strengths (frequent data collection, large sample sizes). To illustrate
	its applicability, we assessed the role of BMI in MS disease course
	but did not find a clinically meaningful role for BMI in this setting.},
  doi = {10.1371/journal.pone.0059707},
  institution = {Program in Translational NeuroPsychiatric Genomics, Department of
	Neurology, Institute for the Neurosciences, Brigham and Women's Hospital,
	Boston, Massachusetts, United States of America.},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {PONE-D-12-37775},
  pmid = {23527256},
  timestamp = {2013.05.30},
  url = {http://dx.doi.org/10.1371/journal.pone.0059707}
}

@ARTICLE{Brown1999,
  author = {Brown, Patrick O. and Botstein, David},
  title = {{ Exploring the new world of the genomewith DNA microarray}},
  journal = {nature genetics supplement},
  year = {1999},
  volume = {21},
  pages = {33--37}
}

@ARTICLE{Cariaso2011,
  author = {Cariaso, Michael and Lennon, Greg},
  title = {SNPedia: a wiki supporting personal genome annotation, interpretation
	and analysis},
  journal = {Nucleic Acids Research},
  year = {2011},
  abstract = {SNPedia (http://www.SNPedia.com) is a wiki resource of the functional
	consequences of human genetic variation as published in peer-reviewed
	studies. Online since 2006 and freely available for personal use,
	SNPedia has focused on the medical, phenotypic and genealogical associations
	of single nucleotide polymorphisms. Entries are formatted to allow
	associations to be assigned to single genotypes as well as sets of
	genotypes (genosets). In this article, we discuss the growth of this
	resource and its use by affiliated software to create personal genome
	reports.},
  doi = {10.1093/nar/gkr798},
  eprint = {http://nar.oxfordjournals.org/content/early/2011/12/02/nar.gkr798.full.pdf+html},
  url = {http://nar.oxfordjournals.org/content/early/2011/12/02/nar.gkr798.abstract}
}

@ARTICLE{Caulfield2011,
  author = {Caulfield, Timothy and McGuire, Amy L},
  title = {Direct-to-Consumer Genetic Testing: Perceptions, Problems and Policy
	Responses},
  journal = {Annual Review of Medicine},
  year = {2011},
  volume = {63},
  pages = {1.1-1.11},
  doi = {10.1146/annurev-med-062110-123753}
}

@ARTICLE{Danecek01082011,
  author = {Danecek, Petr and Auton, Adam and Abecasis, Goncalo and Albers, Cornelis
	A. and Banks, Eric and DePristo, Mark A. and Handsaker, Robert E.
	and Lunter, Gerton and Marth, Gabor T. and Sherry, Stephen T. and
	McVean, Gilean and Durbin, Richard and 1000 Genomes Project Analysis
	Group},
  title = {The variant call format and VCFtools},
  journal = {Bioinformatics},
  year = {2011},
  volume = {27},
  pages = {2156-2158},
  number = {15},
  abstract = {Summary: The variant call format (VCF) is a generic format for storing
	DNA polymorphism data such as SNPs, insertions, deletions and structural
	variants, together with rich annotations. VCF is usually stored in
	a compressed manner and can be indexed for fast data retrieval of
	variants from a range of positions on the reference genome. The format
	was developed for the 1000 Genomes Project, and has also been adopted
	by other projects such as UK10K, dbSNP and the NHLBI Exome Project.
	VCFtools is a software suite that implements various utilities for
	processing VCF files, including validation, merging, comparing and
	also provides a general Perl API.Availability: http://vcftools.sourceforge.netContact:
	rd@sanger.ac.uk},
  doi = {10.1093/bioinformatics/btr330},
  eprint = {http://bioinformatics.oxfordjournals.org/content/27/15/2156.full.pdf+html},
  url = {http://bioinformatics.oxfordjournals.org/content/27/15/2156.abstract}
}

@ARTICLE{Darst2013,
  author = {Darst, Burcu F. and Madlensky, Lisa and Schork, Nicholas J. and Topol,
	Eric J. and Bloss, Cinnamon S.},
  title = {Characteristics of Genomic Test Consumers Who Spontaneously Share
	Results With Their Health Care Provider.},
  journal = {Health Commun},
  year = {2013},
  month = {Feb},
  abstract = {The purpose of this study was to evaluate the characteristics of direct-to-consumer
	(DTC) genomic test consumers who spontaneously shared their test
	results with their health care provider. Utilizing data from the
	Scripps Genomic Health Initiative, we compared demographic, behavioral,
	and attitudinal characteristics of DTC genomic test consumers who
	shared their results with their physician or health care provider
	versus those who did not share. We also compared genomic risk estimates
	between the two groups. Of 2,024 individuals assessed at approximately
	6 months post testing, 540 individuals (26.5\%) reported sharing
	their results with their physician or health care provider. Those
	who shared were older (p < .001), had a higher income (p = .01),
	were more likely to be married (p = .005), and were more likely to
	identify with a religion (p = .004). As assessed prior to undergoing
	testing, sharers also reported higher levels of exercise (p = .003),
	lower fat intake (p = .02), fewer overall concerns about testing
	(p = .001), and fewer concerns related to the privacy of their genomic
	information (p = .03). The genomic disease risk estimates disclosed
	were not associated with sharing. Thus, in a DTC genomic testing
	context, physicians and other health care providers may be more likely
	to encounter patients who are more health conscious and have fewer
	concerns about the privacy of their genomic information. Genomic
	risk itself does not appear to be a primary determinant of sharing
	behavior among consumers.},
  doi = {10.1080/10410236.2012.717216},
  institution = {a Scripps Genomic Medicine , Scripps Translational Science Institute,
	Scripps Health.},
  language = {eng},
  medline-pst = {aheadofprint},
  owner = {drsnuggles},
  pmid = {23384116},
  timestamp = {2013.05.30},
  url = {http://dx.doi.org/10.1080/10410236.2012.717216}
}

@ARTICLE{CrowdsourcingReview2010,
  author = {Dickinson, Janis L. and Zuckerberg, Benjamin and Bonter, David N.},
  title = {{Citizen Science as an Ecological Research Tool: Challenges and Benefits}},
  journal = {The Annual Review of Ecology, Evolution, and Systematics},
  year = {2010},
  volume = {41},
  pages = {149--172},
  citeulike-article-id = {10239704},
  keywords = {citizen, nrc, science},
  posted-at = {2012-01-18 15:45:27},
  priority = {2}
}

@ARTICLE{Do2011,
  author = {Chuong B Do and Joyce Y Tung and Elizabeth Dorfman and Amy K Kiefer
	and Emily M Drabant and Uta Francke and Joanna L Mountain and Samuel
	M Goldman and Caroline M Tanner and J. William Langston and Anne
	Wojcicki and Nicholas Eriksson},
  title = {Web-based genome-wide association study identifies two novel loci
	and a substantial genetic component for Parkinson's disease.},
  journal = {PLoS Genet},
  year = {2011},
  volume = {7},
  pages = {e1002141},
  number = {6},
  month = {Jun},
  abstract = {Although the causes of Parkinson's disease (PD) are thought to be
	primarily environmental, recent studies suggest that a number of
	genes influence susceptibility. Using targeted case recruitment and
	online survey instruments, we conducted the largest case-control
	genome-wide association study (GWAS) of PD based on a single collection
	of individuals to date (3,426 cases and 29,624 controls). We discovered
	two novel, genome-wide significant associations with PD-rs6812193
	near SCARB2 (p = 7.6 × 10(-10), OR = 0.84) and rs11868035 near SREBF1/RAI1
	(p = 5.6 × 10(-8), OR = 0.85)-both replicated in an independent
	cohort. We also replicated 20 previously discovered genetic associations
	(including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing
	support for our novel study design. Relying on a recently proposed
	method based on genome-wide sharing estimates between distantly related
	individuals, we estimated the heritability of PD to be at least 0.27.
	Finally, using sparse regression techniques, we constructed predictive
	models that account for 6\%-7\% of the total variance in liability
	and that suggest the presence of true associations just beyond genome-wide
	significance, as confirmed through both internal and external cross-validation.
	These results indicate a substantial, but by no means total, contribution
	of genetics underlying susceptibility to both early-onset and late-onset
	PD, suggesting that, despite the novel associations discovered here
	and elsewhere, the majority of the genetic component for Parkinson's
	disease remains to be discovered.},
  doi = {10.1371/journal.pgen.1002141},
  institution = {23andMe, Mountain View, California, United States of America. cdo@23andme.com},
  keywords = {Databases, Factual; Genetic Loci, genetics; Genetic Predisposition
	to Disease; Genome-Wide Association Study; Heredity, genetics; Humans;
	Internet; Parkinson Disease, genetics; Polymorphism, Single Nucleotide,
	genetics; Risk Assessment},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {PGENETICS-D-11-00444},
  pmid = {21738487},
  timestamp = {2011.12.13},
  url = {http://dx.doi.org/10.1371/journal.pgen.1002141}
}

@ARTICLE{Dowell2001,
  author = {Dowell, Robin and Jokerst, Rodney and Day, Allen and Eddy, Sean and
	Stein, Lincoln},
  title = {The Distributed Annotation System},
  journal = {BMC Bioinformatics},
  year = {2001},
  volume = {2},
  pages = {7},
  number = {1},
  abstract = {BACKGROUND:Currently, most genome annotation is curated by centralized
	groups with limited resources. Efforts to share annotations transparently
	among multiple groups have not yet been satisfactory.RESULTS:Here
	we introduce a concept called the Distributed Annotation System (DAS).
	DAS allows sequence annotations to be decentralized among multiple
	third-party annotators and integrated on an as-needed basis by client-side
	software. The communication between client and servers in DAS is
	defined by the DAS XML specification. Annotations are displayed in
	layers, one per server. Any client or server adhering to the DAS
	XML specification can participate in the system; we describe a simple
	prototype client and server example.CONCLUSIONS:The DAS specification
	is being used experimentally by Ensembl, WormBase, and the Berkeley
	Drosophila Genome Project. Continued success will depend on the readiness
	of the research community to adopt DAS and provide annotations. All
	components are freely available from the project website http://www.biodas.org/
	webcite.},
  doi = {10.1186/1471-2105-2-7},
  issn = {1471-2105},
  pubmedid = {11667947},
  url = {http://www.biomedcentral.com/1471-2105/2/7}
}

@ARTICLE{Eiben2012,
  author = {Eiben, Christopher B. and Siegel, Justin B. and Bale, Jacob B. and
	Cooper, Seth and Khatib, Firas and Shen, Betty W. and Players, Foldit
	and Stoddard, Barry L. and Popovic, Zoran and Baker, David},
  title = {Increased Diels-Alderase activity through backbone remodeling guided
	by Foldit players.},
  journal = {Nat Biotechnol},
  year = {2012},
  volume = {30},
  pages = {190--192},
  number = {2},
  month = {Feb},
  abstract = {Computational enzyme design holds promise for the production of renewable
	fuels, drugs and chemicals. De novo enzyme design has generated catalysts
	for several reactions, but with lower catalytic efficiencies than
	naturally occurring enzymes. Here we report the use of game-driven
	crowdsourcing to enhance the activity of a computationally designed
	enzyme through the functional remodeling of its structure. Players
	of the online game Foldit were challenged to remodel the backbone
	of a computationally designed bimolecular Diels-Alderase to enable
	additional interactions with substrates. Several iterations of design
	and characterization generated a 24-residue helix-turn-helix motif,
	including a 13-residue insertion, that increased enzyme activity
	>18-fold. X-ray crystallography showed that the large insertion adopts
	a helix-turn-helix structure positioned as in the Foldit model. These
	results demonstrate that human creativity can extend beyond the macroscopic
	challenges encountered in everyday life to molecular-scale design
	problems.},
  doi = {10.1038/nbt.2109},
  institution = {Department of Biochemistry, University of Washington, Seattle, Washington,
	USA.},
  keywords = {Algorithms; Catalysis; Computational Biology; Crystallography, X-Ray;
	Enzymes, chemical synthesis/chemistry; Helix-Turn-Helix Motifs; Humans;
	Models, Molecular; Protein Engineering, methods; Structure-Activity
	Relationship; Substrate Specificity; Video Games},
  language = {eng},
  medline-pst = {epublish},
  owner = {drsnuggles},
  pii = {nbt.2109},
  pmid = {22267011},
  timestamp = {2013.06.01},
  url = {http://dx.doi.org/10.1038/nbt.2109}
}

@ARTICLE{Eriksson2010,
  author = {Nicholas Eriksson and J. Michael Macpherson and Joyce Y Tung and
	Lawrence S Hon and Brian Naughton and Serge Saxonov and Linda Avey
	and Anne Wojcicki and Itsik Pe'er and Joanna Mountain},
  title = {Web-based, participant-driven studies yield novel genetic associations
	for common traits.},
  journal = {PLoS Genet},
  year = {2010},
  volume = {6},
  pages = {e1000993},
  number = {6},
  month = {Jun},
  abstract = {Despite the recent rapid growth in genome-wide data, much of human
	variation remains entirely unexplained. A significant challenge in
	the pursuit of the genetic basis for variation in common human traits
	is the efficient, coordinated collection of genotype and phenotype
	data. We have developed a novel research framework that facilitates
	the parallel study of a wide assortment of traits within a single
	cohort. The approach takes advantage of the interactivity of the
	Web both to gather data and to present genetic information to research
	participants, while taking care to correct for the population structure
	inherent to this study design. Here we report initial results from
	a participant-driven study of 22 traits. Replications of associations
	(in the genes OCA2, HERC2, SLC45A2, SLC24A4, IRF4, TYR, TYRP1, ASIP,
	and MC1R) for hair color, eye color, and freckling validate the Web-based,
	self-reporting paradigm. The identification of novel associations
	for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A;
	and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability
	to smell the methanethiol produced after eating asparagus (rs4481887,
	near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and
	rs11856995, near NR2F2) illustrates the power of the approach.},
  doi = {10.1371/journal.pgen.1000993},
  institution = {23andMe, Mountain View, California, United States of America. nick@23andme.com},
  keywords = {Chromosomes, Human; Genetic Variation; Genome-Wide Association Study,
	methods; Genomics; Genotype; Hair; Humans; Internet; Models, Genetic;
	Phenotype},
  language = {eng},
  medline-pst = {epublish},
  owner = {drsnuggles},
  pmid = {20585627},
  timestamp = {2011.12.13},
  url = {http://dx.doi.org/10.1371/journal.pgen.1000993}
}

@ARTICLE{Finn2007,
  author = {Finn, Robert D. and Stalker, James W. and Jackson, David K. and Kulesha,
	Eugene and Clements, Jody and Pettett, Roger},
  title = {ProServer: a simple, extensible Perl DAS server},
  journal = {Bioinformatics},
  year = {2007},
  volume = {23},
  pages = {1568-1570},
  number = {12},
  abstract = {Summary: The increasing size and complexity of biological databases
	has led to a growing trend to federate rather than duplicate them.
	In order to share data between federated databases, protocols for
	the exchange mechanism must be developed. One such data exchange
	protocol that is widely used is the Distributed Annotation System
	(DAS). For example, DAS has enabled small experimental groups to
	integrate their data into the Ensembl genome browser. We have developed
	ProServer, a simple, lightweight, Perl-based DAS server that does
	not depend on a separate HTTP server. The ProServer package is easily
	extensible, allowing data to be served from almost any underlying
	data model. Recent additions to the DAS protocol have enabled both
	structure and alignment (sequence and structural) data to be exchanged.
	ProServer allows both of these data types to be served.Availability:
	ProServer can be downloaded from http://www.sanger.ac.uk/proserver/
	or CPAN http://search.cpan.org/~rpettett/. Details on the system
	requirements and installation of ProServer can be found at http://www.sanger.ac.uk/proserver/.Contact:
	rmp@sanger.ac.ukSupplementary Materials: DasClientExamples.pdf},
  doi = {10.1093/bioinformatics/btl650},
  eprint = {http://bioinformatics.oxfordjournals.org/content/23/12/1568.full.pdf+html},
  url = {http://bioinformatics.oxfordjournals.org/content/23/12/1568.abstract}
}

@ARTICLE{fitbit,
  author = {FitbitInc},
  title = {{Fitbit http://www.fitbit.com}},
  journal = {Fitbit Homepage},
  year = {2012},
  howpublished = {\url{http://www.23andme.com/about/privacy/}}
}

@ARTICLE{GelMoreno2011,
  author = {Gel Moreno, Bernat and Jenkinson, Andrew and Jimenez, Rafael and
	Messeguer Peypoch, Xavier and Hermjakob, Henning},
  title = {easyDAS: Automatic creation of DAS servers},
  journal = {BMC Bioinformatics},
  year = {2011},
  volume = {12},
  pages = {23},
  number = {1},
  abstract = {BACKGROUND:The Distributed Annotation System (DAS) has proven to be
	a successful way to publish and share biological data. Although there
	are more than 750 active registered servers from around 50 organizations,
	setting up a DAS server comprises a fair amount of work, making it
	difficult for many research groups to share their biological annotations.
	Given the clear advantage that the generalized sharing of relevant
	biological data is for the research community it would be desirable
	to facilitate the sharing process.RESULTS:Here we present easyDAS,
	a web-based system enabling anyone to publish biological annotations
	with just some clicks. The system, available at http://www.ebi.ac.uk/panda-srv/easydas
	webcite is capable of reading different standard data file formats,
	process the data and create a new publicly available DAS source in
	a completely automated way. The created sources are hosted on the
	EBI systems and can take advantage of its high storage capacity and
	network connection, freeing the data provider from any network management
	work. easyDAS is an open source project under the GNU LGPL license.CONCLUSIONS:easyDAS
	is an automated DAS source creation system which can help many researchers
	in sharing their biological data, potentially increasing the amount
	of relevant biological data available to the scientific community.},
  doi = {10.1186/1471-2105-12-23},
  issn = {1471-2105},
  pubmedid = {21244646},
  url = {http://www.biomedcentral.com/1471-2105/12/23}
}

@ARTICLE{Gollust2012,
  author = {Gollust, S. E. and Gordon, E. S. and Zayac, C. and Griffin, G. and
	Christman, M. F. and Pyeritz, R. E. and Wawak, L. and Bernhardt,
	B. A.},
  title = {Motivations and perceptions of early adopters of personalized genomics:
	perspectives from research participants.},
  journal = {Public Health Genomics},
  year = {2012},
  volume = {15},
  pages = {22--30},
  number = {1},
  abstract = {To predict the potential public health impact of personal genomics,
	empirical research on public perceptions of these services is needed.
	In this study, 'early adopters' of personal genomics were surveyed
	to assess their motivations, perceptions and intentions.Participants
	were recruited from everyone who registered to attend an enrollment
	event for the Coriell Personalized Medicine Collaborative, a United
	States-based (Camden, N.J.) research study of the utility of personalized
	medicine, between March 31, 2009 and April 1, 2010 (n = 369). Participants
	completed an Internet-based survey about their motivations, awareness
	of personalized medicine, perceptions of study risks and benefits,
	and intentions to share results with health care providers.Respondents
	were motivated to participate for their own curiosity and to find
	out their disease risk to improve their health. Fewer than 10\% expressed
	deterministic perspectives about genetic risk, but 32\% had misperceptions
	about the research study or personal genomic testing. Most respondents
	perceived the study to have health-related benefits. Nearly all (92\%)
	intended to share their results with physicians, primarily to request
	specific medical recommendations.Early adopters of personal genomics
	are prospectively enthusiastic about using genomic profiling information
	to improve their health, in close consultation with their physicians.
	This suggests that early users (i.e. through direct-to-consumer companies
	or research) may follow up with the health care system. Further research
	should address whether intentions to seek care match actual behaviors.},
  doi = {10.1159/000327296},
  institution = {Division of Health Policy and Management, University of Minnesota
	School of Public Health, Minneapolis, MN, USA. sgollust@umn.edu},
  keywords = {Adolescent; Adult; Aged; Consumer Participation; Female; Genetic Predisposition
	to Disease; Genomics; Humans; Individualized Medicine; Information
	Dissemination; Male; Middle Aged; Motivation; Perception; Prospective
	Studies; Young Adult},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {000327296},
  pmid = {21654153},
  timestamp = {2013.05.30},
  url = {http://dx.doi.org/10.1159/000327296}
}

@ARTICLE{Hauskeller2011,
  author = {Hauskeller, C.},
  title = {{Direct to consumer genetic testing}},
  journal = {Bmj},
  year = {2011},
  volume = {342},
  pages = {d2317--d2317},
  number = {apr21 1},
  month = apr,
  doi = {10.1136/bmj.d2317},
  file = {:Users/bastian/Documents/Paper/Hauskeller/Bmj/0.pdf:pdf},
  issn = {0959-8138},
  url = {http://www.bmj.com/cgi/doi/10.1136/bmj.d2317}
}

@ARTICLE{Hindorff2009,
  author = {Hindorff, Lucia A. and Sethupathy, Praveen and Junkins, Heather A.
	and Ramos, Erin M. and Mehta, Jayashri P. and Collins, Francis S.
	and Manolio, Teri A.},
  title = {Potential etiologic and functional implications of genome-wide association
	loci for human diseases and traits},
  journal = {Proceedings of the National Academy of Sciences},
  year = {2009},
  volume = {106},
  pages = {9362-9367},
  number = {23},
  abstract = {We have developed an online catalog of SNP-trait associations from
	published genome-wide association studies for use in investigating
	genomic characteristics of trait/disease-associated SNPs (TASs).
	Reported TASs were common [median risk allele frequency 36%, interquartile
	range (IQR) 21%−53%] and were associated with modest effect sizes
	[median odds ratio (OR) 1.33, IQR 1.20–1.61]. Among 20 genomic
	annotation sets, reported TASs were significantly overrepresented
	only in nonsynonymous sites [OR = 3.9 (2.2−7.0), p = 3.5 × 10−7]
	and 5kb-promoter regions [OR = 2.3 (1.5−3.6), p = 3 × 10−4]
	compared to SNPs randomly selected from genotyping arrays. Although
	88% of TASs were intronic (45%) or intergenic (43%), TASs were not
	overrepresented in introns and were significantly depleted in intergenic
	regions [OR = 0.44 (0.34−0.58), p = 2.0 × 10−9]. Only slightly
	more TASs than expected by chance were predicted to be in regions
	under positive selection [OR = 1.3 (0.8−2.1), p = 0.2]. This new
	online resource, together with bioinformatic predictions of the underlying
	functionality at trait/disease-associated loci, is well-suited to
	guide future investigations of the role of common variants in complex
	disease etiology.},
  doi = {10.1073/pnas.0903103106},
  eprint = {http://www.pnas.org/content/106/23/9362.full.pdf+html},
  url = {http://www.pnas.org/content/106/23/9362.abstract}
}

@ARTICLE{Hogarth2008,
  author = {Hogarth, Stuart and Javitt, Gail and Melzer, David},
  title = {{The current landscape for direct-to-consumer genetic testing: legal,
	ethical, and policy issues.}},
  journal = {Annual review of genomics and human genetics},
  year = {2008},
  volume = {9},
  pages = {161--82},
  month = jan,
  abstract = {This review surveys the developing market for direct-to-consumer (DTC)
	genetic tests and examines the range of companies and tests available,
	the regulatory landscape, the concerns raised about DTC testing,
	and the calls for enhanced oversight. We provide a comparative overview
	of the situation, particularly in the United States and Europe, by
	exploring the regulatory frameworks for medical devices and clinical
	laboratories. We also discuss a variety of other mechanisms such
	as general controls on advertising and consumer law mechanisms.},
  doi = {10.1146/annurev.genom.9.081307.164319},
  file = {:Users/bastian/Documents/Paper/Hogarth, Javitt, Melzer/Annual review of genomics and human genetics/annurev\%2Egenom\%2E9\%2E081307\%2E164319.pdf:pdf},
  issn = {1527-8204},
  keywords = {Advertising as Topic,Europe,Genetic Techniques,Genetic Techniques:
	economics,Genetic Techniques: ethics,Genetics, Medical,Genetics,
	Medical: economics,Genetics, Medical: ethics,Genetics, Medical: legislation
	\& jurisprudence,Humans,Marketing of Health Services,Public Policy,United
	States},
  pmid = {18767961},
  url = {http://www.ncbi.nlm.nih.gov/pubmed/18767961}
}

@ARTICLE{Jenkinson2008,
  author = {Jenkinson, Andrew and Albrecht, Mario and Birney, Ewan and Blankenburg,
	Hagen and Down, Thomas and Finn, Robert and Hermjakob, Henning and
	Hubbard, Tim and Jimenez, Rafael and Jones, Philip and Kahari, Andreas
	and Kulesha, Eugene and Macias, Jose and Reeves, Gabrielle and Prlic,
	Andreas},
  title = {Integrating biological data - the Distributed Annotation System},
  journal = {BMC Bioinformatics},
  year = {2008},
  volume = {9},
  pages = {S3},
  number = {Suppl 8},
  abstract = {BACKGROUND:The Distributed Annotation System (DAS) is a widely adopted
	protocol for dynamically integrating a wide range of biological data
	from geographically diverse sources. DAS continues to expand its
	applicability and evolve in response to new challenges facing integrative
	bioinformatics.RESULTS:Here we describe the various infrastructure
	components of DAS and present a new extended version of the DAS specification.
	Version 1.53E incorporates several recent developments, including
	its extension to serve new data types and an ontology for protein
	features.CONCLUSION:Our extensions to the DAS protocol have facilitated
	the integration of new data types, and our improvements to the existing
	DAS infrastructure have addressed recent challenges. The steadily
	increasing numbers of available data sources demonstrates further
	adoption of the DAS protocol.},
  doi = {10.1186/1471-2105-9-S8-S3},
  issn = {1471-2105},
  pubmedid = {18673527},
  url = {http://www.biomedcentral.com/1471-2105/9/S8/S3}
}

@ARTICLE{Joh2011,
  author = {Joh, Elizabeth E},
  title = {{Ethics watch: DNA theft: your genetic information at risk.}},
  journal = {Nature reviews. Genetics},
  year = {2011},
  volume = {12},
  pages = {3113},
  number = {October},
  month = oct,
  doi = {10.1038/nrg3113},
  file = {:Users/bastian/Documents/Paper/Joh/Nature reviews. Genetics/nrg3113.pdf:pdf},
  issn = {1471-0064},
  pmid = {22025003},
  url = {http://www.ncbi.nlm.nih.gov/pubmed/22025003}
}

@ARTICLE{Johnson2009,
  author = {Johnson, Andrew and O'Donnell, Christopher},
  title = {An Open Access Database of Genome-wide Association Results},
  journal = {BMC Medical Genetics},
  year = {2009},
  volume = {10},
  pages = {6},
  number = {1},
  abstract = {BACKGROUND:The number of genome-wide association studies (GWAS) is
	growing rapidly leading to the discovery and replication of many
	new disease loci. Combining results from multiple GWAS datasets may
	potentially strengthen previous conclusions and suggest new disease
	loci, pathways or pleiotropic genes. However, no database or centralized
	resource currently exists that contains anywhere near the full scope
	of GWAS results.METHODS:We collected available results from 118 GWAS
	articles into a database of 56,411 significant SNP-phenotype associations
	and accompanying information, making this database freely available
	here. In doing so, we met and describe here a number of challenges
	to creating an open access database of GWAS results. Through preliminary
	analyses and characterization of available GWAS, we demonstrate the
	potential to gain new insights by querying a database across GWAS.RESULTS:Using
	a genomic bin-based density analysis to search for highly associated
	regions of the genome, positive control loci (e.g., MHC loci) were
	detected with high sensitivity. Likewise, an analysis of highly repeated
	SNPs across GWAS identified replicated loci (e.g., APOE, LPL). At
	the same time we identified novel, highly suggestive loci for a variety
	of traits that did not meet genome-wide significant thresholds in
	prior analyses, in some cases with strong support from the primary
	medical genetics literature (SLC16A7, CSMD1, OAS1), suggesting these
	genes merit further study. Additional adjustment for linkage disequilibrium
	within most regions with a high density of GWAS associations did
	not materially alter our findings. Having a centralized database
	with standardized gene annotation also allowed us to examine the
	representation of functional gene categories (gene ontologies) containing
	one or more associations among top GWAS results. Genes relating to
	cell adhesion functions were highly over-represented among significant
	associations (p < 4.6 x 10-14), a finding which was not perturbed
	by a sensitivity analysis.CONCLUSION:We provide access to a full
	gene-annotated GWAS database which could be used for further querying,
	analyses or integration with other genomic information. We make a
	number of general observations. Of reported associated SNPs, 40%
	lie within the boundaries of a RefSeq gene and 68% are within 60
	kb of one, indicating a bias toward gene-centricity in the findings.
	We found considerable heterogeneity in information available from
	GWAS suggesting the wider community could benefit from standardization
	and centralization of results reporting.},
  doi = {10.1186/1471-2350-10-6},
  issn = {1471-2350},
  pubmedid = {19161620},
  url = {http://www.biomedcentral.com/1471-2350/10/6}
}

@ARTICLE{Klein2005,
  author = {Klein, Robert J. and Zeiss, Caroline and Chew, Emily Y. and Tsai,
	Jen-Yue and Sackler, Richard S. and Haynes, Chad and Henning, Alice
	K. and SanGiovanni, John Paul and Mane, Shrikant M. and Mayne, Susan
	T. and Bracken, Michael B. and Ferris, Frederick L. and Ott, Jurg
	and Barnstable, Colin and Hoh, Josephine},
  title = {Complement Factor H Polymorphism in Age-Related Macular Degeneration},
  journal = {Science},
  year = {2005},
  volume = {308},
  pages = {385-389},
  number = {5720},
  abstract = {Age-related macular degeneration (AMD) is a major cause of blindness
	in the elderly. We report a genome-wide screen of 96 cases and 50
	controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide
	polymorphisms genotyped, an intronic and common variant in the complement
	factor H gene (CFH) is strongly associated with AMD (nominal P value
	<10-7). In individuals homozygous for the risk allele, the likelihood
	of AMD is increased by a factor of 7.4 (95% confidence interval 2.9
	to 19). Resequencing revealed a polymorphism in linkage disequilibrium
	with the risk allele representing a tyrosine-histidine change at
	amino acid 402. This polymorphism is in a region of CFH that binds
	heparin and C-reactive protein. The CFH gene is located on chromosome
	1 in a region repeatedly linked to AMD in family-based studies.},
  doi = {10.1126/science.1109557},
  eprint = {http://www.sciencemag.org/content/308/5720/385.full.pdf},
  url = {http://www.sciencemag.org/content/308/5720/385.abstract}
}

@ARTICLE{Lee2009,
  author = {Lee, Sandra Soo-Jin and Crawley, LaVera},
  title = {Research 2.0: social networking and direct-to-consumer (DTC) genomics.},
  journal = {Am J Bioeth},
  year = {2009},
  volume = {9},
  pages = {35--44},
  number = {6-7},
  __markedentry = {[drsnuggles:6]},
  abstract = {The convergence of increasingly efficient high throughput sequencing
	technology and ubiquitous Internet use by the public has fueled the
	proliferation of companies that provide personal genetic information
	(PGI) direct-to-consumers. Companies such as 23andme (Mountain View,
	CA) and Navigenics (Foster City, CA) are emblematic of a growing
	market for PGI that some argue represents a paradigm shift in how
	the public values this information and incorporates it into how they
	behave and plan for their futures. This new class of social networking
	business ventures that market the science of the personal genome
	illustrates the new trend in collaborative science. In addition to
	fostering a consumer empowerment movement, it promotes the trend
	of democratizing information--openly sharing of data with all interested
	parties, not just the biomedical researcher--for the purposes of
	pooling data (increasing statistical power) and escalating the innovation
	process. This target article discusses the need for new approaches
	to studying DTC genomics using social network analysis to identify
	the impact of obtaining, sharing, and using PGI. As a locus of biosociality,
	DTC personal genomics forges social relationships based on beliefs
	of common genetic susceptibility that links risk, disease, and group
	identity. Ethical issues related to the reframing of DTC personal
	genomic consumers as advocates and research subjects and the creation
	of new social formations around health research may be identified
	through social network analysis.},
  doi = {10.1080/15265160902874452},
  institution = {Stanford Center for Biomedical Ethics, Stanford University Medical
	School, Palo Alto, CA 94304, USA. sandra.lee@stanford.edu},
  keywords = {Biotechnology, ethics/trends; Consumer Participation, trends; Databases,
	Genetic; Decision Making, ethics; Genetic Predisposition to Disease;
	Genetic Privacy, ethics; Genetic Testing, ethics; Genome, Human;
	Genomics, ethics; Humans; Internet; Marketing of Health Services,
	ethics/methods; Private Sector, ethics/trends; Public Opinion; Public
	Policy, trends; Social Support},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {911997739},
  pmid = {19998112},
  timestamp = {2013.06.03},
  url = {http://dx.doi.org/10.1080/15265160902874452}
}

@ARTICLE{parkinsons,
  author = {Lill, , Christina M. AND Roehr, , Johannes T. AND McQueen, , Matthew
	B. AND Kavvoura, , Fotini K. AND Bagade, , Sachin AND Schjeide, ,
	Brit-Maren M. AND Schjeide, , Leif M. AND Meissner, , Esther AND
	Zauft, , Ute AND Allen, , Nicole C. AND Liu, , Tian AND Schilling,
	, Marcel AND Anderson, , Kari J. AND Beecham, , Gary AND Berg, ,
	Daniela AND Biernacka, , Joanna M. AND Brice, , Alexis AND DeStefano,
	, Anita L. AND Do, , Chuong B. AND Eriksson, , Nicholas AND Factor,
	, Stewart A. AND Farrer, , Matthew J. AND Foroud, , Tatiana AND Gasser,
	, Thomas AND Hamza, , Taye AND Hardy, , John A. AND Heutink, , Peter
	AND Hill-Burns, , Erin M. AND Klein, , Christine AND Latourelle,
	, Jeanne C. AND Maraganore, , Demetrius M. AND Martin, , Eden R.
	AND Martinez, , Maria AND Myers, , Richard H. AND Nalls, , Michael
	A. AND Pankratz, , Nathan AND Payami, , Haydeh AND Satake, , Wataru
	AND Scott, , William K. AND Sharma, , Manu AND Singleton, , Andrew
	B. AND Stefansson, , Kari AND Toda, , Tatsushi AND Tung, , Joyce
	Y. AND Vance, , Jeffery AND Wood, , Nick W. AND Zabetian, , Cyrus
	P. AND Young, , Peter AND Tanzi, , Rudolph E. AND Khoury, , Muin
	J. AND Zipp, , Frauke AND Lehrach, , Hans AND Ioannidis, , John P.
	A. AND Bertram, , Lars AND 23andMe, The Genetic Epidemiology of Parkinson's
	Disease (GEO-PD) Consortium, The International Parkinson's Disease
	Genomics Consortium (IPDGC), The Parkinson's Disease GWAS Consortium,
	The Wellcome Trust Case Control Consortium 2 (WTCCC2)},
  title = {Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's
	Disease Genetics: The PDGene Database},
  journal = {PLoS Genet},
  year = {2012},
  volume = {8},
  pages = {e1002548},
  number = {3},
  month = {03},
  abstract = {<title>Author Summary</title> <p>The genetic basis of Parkinson's
	disease is complex, i.e. it is determined by a number of different
	disease-causing and disease-predisposing genes. Especially the latter
	have proven difficult to find, evidenced by more than 800 published
	genetic association studies, typically showing discrepant results.
	To facilitate the interpretation of this large and continuously increasing
	body of data, we have created a freely available online database
	(“PDGene”: <ext-link xmlns:xlink="http://www.w3.org/1999/xlink"
	ext-link-type="uri" xlink:href="http://www.pdgene.org" xlink:type="simple">http://www.pdgene.org</ext-link>)
	which provides an exhaustive account of all published genetic association
	studies in PD. One particularly useful feature is the calculation
	and display of up-to-date summary statistics of published data for
	overlapping DNA sequence variants (polymorphisms). These meta-analyses
	revealed eleven gene loci that showed a statistically very significant
	(<italic>P</italic>&lt;5×10<sup>−8</sup>; a.k.a. genome-wide significance)
	association with risk for PD: <italic>BST1</italic>, <italic>CCDC62/HIP1R</italic>,
	<italic>DGKQ/GAK</italic>, <italic>GBA</italic>, <italic>LRRK2</italic>,
	<italic>MAPT</italic>, <italic>MCCC1/LAMP3</italic>, PARK16, <italic>SNCA</italic>,
	<italic>STK39</italic>, <italic>SYT11/RAB25</italic>. In addition
	and purely by data-mining, we identified one novel PD susceptibility
	locus in a gene called <italic>ITGA8</italic> (rs7077361, <italic>P</italic> = 1.3×10<sup>−8</sup>).
	We note that our continuously updated database represents the most
	comprehensive research synopsis of genetic association studies in
	PD to date. In addition to vastly facilitating the work of other
	PD geneticists, our approach may serve as a valuable example for
	other complex diseases.</p>},
  doi = {10.1371/journal.pgen.1002548},
  publisher = {Public Library of Science},
  url = {http://dx.doi.org/10.1371%2Fjournal.pgen.1002548}
}

@ARTICLE{GalaxyZoo,
  author = {Lintott, Chris J. and Schawinski, Kevin and Slosar, Anže and Land,
	Kate and Bamford, Steven and Thomas, Daniel and Raddick, M. Jordan
	and Nichol, Robert C. and Szalay, Alex and Andreescu, Dan and Murray,
	Phil and Vandenberg, Jan},
  title = {Galaxy Zoo: morphologies derived from visual inspection of galaxies
	from the Sloan Digital Sky Survey},
  journal = {Monthly Notices of the Royal Astronomical Society},
  year = {2008},
  volume = {389},
  pages = {1179-1189},
  number = {3},
  abstract = {In order to understand the formation and subsequent evolution of galaxies
	one must first distinguish between the two main morphological classes
	of massive systems: spirals and early-type systems. This paper introduces
	a project, Galaxy Zoo, which provides visual morphological classifications
	for nearly one million galaxies, extracted from the Sloan Digital
	Sky Survey (SDSS). This achievement was made possible by inviting
	the general public to visually inspect and classify these galaxies
	via the internet. The project has obtained more than 4 × 107 individual
	classifications made by ∼105 participants. We discuss the motivation
	and strategy for this project, and detail how the classifications
	were performed and processed. We find that Galaxy Zoo results are
	consistent with those for subsets of SDSS galaxies classified by
	professional astronomers, thus demonstrating that our data provide
	a robust morphological catalogue. Obtaining morphologies by direct
	visual inspection avoids introducing biases associated with proxies
	for morphology such as colour, concentration or structural parameters.
	In addition, this catalogue can be used to directly compare SDSS
	morphologies with older data sets. The colour–magnitude diagrams
	for each morphological class are shown, and we illustrate how these
	distributions differ from those inferred using colour alone as a
	proxy for morphology.},
  doi = {10.1111/j.1365-2966.2008.13689.x},
  eprint = {http://mnras.oxfordjournals.org/content/389/3/1179.full.pdf+html},
  url = {http://mnras.oxfordjournals.org/content/389/3/1179.abstract}
}

@ARTICLE{McGowan2010,
  author = {McGowan, Michelle L. and Fishman, Jennifer R. and Lambrix, Marcie
	A.},
  title = {Personal genomics and individual identities: motivations and moral
	imperatives of early users.},
  journal = {New Genet Soc},
  year = {2010},
  volume = {29},
  pages = {261--290},
  number = {3},
  month = {Sep},
  abstract = {Since 2007, consumer genomics companies have marketed personal genome
	scanning services to assess users' genetic predispositions to a variety
	of complex diseases and traits. This study investigates early users'
	reasons for utilizing personal genome services, their evaluation
	of the technology, how they interpret the results, and how they incorporate
	the results into health-related decision-making. The analysis contextualizes
	early users' relationships to the technology, the knowledge generated
	by it, and how it mediates their relationship to their own health
	and to biomedicine more broadly. The results reveal that early users
	approach personal genome scanning with both optimism for genomic
	research and scepticism about the technology's current capabilities,
	which runs contrary to concerns that consumers may be ill equipped
	to interpret and understand genome scan results. These findings provide
	important qualitative insight into early users' conceptualizations
	of personal genomic risk assessment and illuminate their involvement
	in configuring this technology in the making.},
  doi = {10.1080/14636778.2010.507485},
  institution = {Department of Bioethics, Case Western Reserve University, Cleveland,
	US.},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pmid = {21076647},
  timestamp = {2013.05.30},
  url = {http://dx.doi.org/10.1080/14636778.2010.507485}
}

@ARTICLE{10.1371.journal.pone.0031470,
  author = {Mei, , Hao AND Chen, , Wei AND Jiang, , Fan AND He, , Jiang AND Srinivasan,
	, Sathanur AND Smith, , Erin N. AND Schork, , Nicholas AND Murray,
	, Sarah AND Berenson, , Gerald S.},
  title = {Longitudinal Replication Studies of GWAS Risk SNPs Influencing Body
	Mass Index over the Course of Childhood and Adulthood},
  journal = {PLoS ONE},
  year = {2012},
  volume = {7},
  pages = {e31470},
  number = {2},
  month = {02},
  abstract = {<p>Genome-wide association studies (GWAS) have identified multiple
	common variants associated with body mass index (BMI). In this study,
	we tested 23 genotyped GWAS-significant SNPs (p-value&lt;5*10-8)
	for longitudinal associations with BMI during childhood (3–17 years)
	and adulthood (18–45 years) for 658 subjects. We also proposed
	a heuristic forward search for the best joint effect model to explain
	the longitudinal BMI variation. After using false discovery rate
	(FDR) to adjust for multiple tests, childhood and adulthood BMI were
	found to be significantly associated with six SNPs each (q-value&lt;0.05),
	with one SNP associated with both BMI measurements: KCTD15 rs29941
	(q-value&lt;7.6*10-4). These 12 SNPs are located at or near genes
	either expressed in the brain (BDNF, KCTD15, TMEM18, MTCH2, and FTO)
	or implicated in cell apoptosis and proliferation (FAIM2, MAP2K5,
	and TFAP2B). The longitudinal effects of FAIM2 rs7138803 on childhood
	BMI and MAP2K5 rs2241423 on adulthood BMI decreased as age increased
	(q-value&lt;0.05). The FTO candidate SNPs, rs6499640 at the 5 ′-end
	and rs1121980 and rs8050136 downstream, were associated with childhood
	and adulthood BMI, respectively, and the risk effects of rs6499640
	and rs1121980 increased as birth weight decreased. The best joint
	effect model for childhood and adulthood BMI contained 14 and 15
	SNPs each, with 11 in common, and the percentage of explained variance
	increased from 0.17% and 9.0*10<sup>−6</sup>% to 2.22% and 2.71%,
	respectively. In summary, this study evidenced the presence of long-term
	major effects of genes on obesity development, implicated in pathways
	related to neural development and cell metabolism, and different
	sets of genes associated with childhood and adulthood BMI, respectively.
	The gene effects can vary with age and be modified by prenatal development.
	The best joint effect model indicated that multiple variants with
	effects that are weak or absent alone can nevertheless jointly exert
	a large longitudinal effect on BMI.</p>},
  doi = {10.1371/journal.pone.0031470},
  publisher = {Public Library of Science},
  url = {http://dx.doi.org/10.1371%2Fjournal.pone.0031470}
}

@ARTICLE{10.1371/journal.pbio.1001195,
  author = {Molloy, , Jennifer C.},
  title = {The Open Knowledge Foundation: Open Data Means Better Science},
  journal = {PLoS Biol},
  year = {2011},
  volume = {9},
  pages = {e1001195},
  number = {12},
  month = {12},
  abstract = {<p>Open data leads to better science, but overcoming the barriers
	to widespread publication and availability of open scientific data
	requires a community effort. The Open Knowledge Foundation Open Data
	in Science Working Group describes their role in this movement.</p>},
  doi = {10.1371/journal.pbio.1001195},
  publisher = {Public Library of Science},
  url = {http://dx.doi.org/10.1371%2Fjournal.pbio.1001195}
}

@ARTICLE{breastcancer,
  author = {Njiaju, Uchenna O. and Olopade, Olufunmilayo I.},
  title = {Genetic Determinants of Breast Cancer Risk: A Review of Current Literature
	and Issues Pertaining to Clinical Application},
  journal = {The Breast Journal},
  year = {2012},
  volume = {18},
  pages = {436--442},
  number = {5},
  doi = {10.1111/j.1524-4741.2012.01274.x},
  issn = {1524-4741},
  keywords = {breast cancer, genetic risk, risk reduction},
  publisher = {Blackwell Publishing Ltd},
  url = {http://dx.doi.org/10.1111/j.1524-4741.2012.01274.x}
}

@ARTICLE{10.1371.journal.pone.0029848,
  author = {Sebastiani, , Paola AND Solovieff, , Nadia AND DeWan, , Andrew T.
	AND Walsh, , Kyle M. AND Puca, , Annibale AND Hartley, , Stephen
	W. AND Melista, , Efthymia AND Andersen, , Stacy AND Dworkis, , Daniel
	A. AND Wilk, , Jemma B. AND Myers, , Richard H. AND Steinberg, ,
	Martin H. AND Montano, , Monty AND Baldwin, , Clinton T. AND Hoh,
	, Josephine AND Perls, , Thomas T.},
  title = {Genetic Signatures of Exceptional Longevity in Humans},
  journal = {PLoS ONE},
  year = {2012},
  volume = {7},
  pages = {e29848},
  number = {1},
  month = {01},
  abstract = {<p>Like most complex phenotypes, exceptional longevity is thought
	to reflect a combined influence of environmental (e.g., lifestyle
	choices, where we live) and genetic factors. To explore the genetic
	contribution, we undertook a genome-wide association study of exceptional
	longevity in 801 centenarians (median age at death 104 years) and
	914 genetically matched healthy controls. Using these data, we built
	a genetic model that includes 281 single nucleotide polymorphisms
	(SNPs) and discriminated between cases and controls of the discovery
	set with 89% sensitivity and specificity, and with 58% specificity
	and 60% sensitivity in an independent cohort of 341 controls and
	253 genetically matched nonagenarians and centenarians (median age
	100 years). Consistent with the hypothesis that the genetic contribution
	is largest with the oldest ages, the sensitivity of the model increased
	in the independent cohort with older and older ages (71% to classify
	subjects with an age at death&gt;102 and 85% to classify subjects
	with an age at death&gt;105). For further validation, we applied
	the model to an additional, unmatched 60 centenarians (median age
	107 years) resulting in 78% sensitivity, and 2863 unmatched controls
	with 61% specificity. The 281 SNPs include the SNP rs2075650 in <italic>TOMM40/APOE</italic>
	that reached irrefutable genome wide significance (posterior probability
	of association = 1) and replicated in the independent cohort.
	Removal of this SNP from the model reduced the accuracy by only 1%.
	Further in-silico analysis suggests that 90% of centenarians can
	be grouped into clusters characterized by different “genetic signatures”
	of varying predictive values for exceptional longevity. The correlation
	between 3 signatures and 3 different life spans was replicated in
	the combined replication sets. The different signatures may help
	dissect this complex phenotype into sub-phenotypes of exceptional
	longevity.</p>},
  doi = {10.1371/journal.pone.0029848},
  publisher = {Public Library of Science},
  url = {http://dx.doi.org/10.1371%2Fjournal.pone.0029848}
}

@ARTICLE{Sherry2001,
  author = {Sherry, S. T. and Ward, M. H. and Kholodov, M. and Baker, J. and
	Phan, L. and Smigielski, E. M. and Sirotkin, K.},
  title = {dbSNP: the NCBI database of genetic variation.},
  journal = {Nucleic Acids Res},
  year = {2001},
  volume = {29},
  pages = {308--311},
  number = {1},
  month = {Jan},
  abstract = {In response to a need for a general catalog of genome variation to
	address the large-scale sampling designs required by association
	studies, gene mapping and evolutionary biology, the National Center
	for Biotechnology Information (NCBI) has established the dbSNP database
	[S.T.Sherry, M.Ward and K. Sirotkin (1999) Genome Res., 9, 677-679].
	Submissions to dbSNP will be integrated with other sources of information
	at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project
	data. The complete contents of dbSNP are available to the public
	at website: http://www.ncbi.nlm.nih.gov/SNP. The complete contents
	of dbSNP can also be downloaded in multiple formats via anonymous
	FTP at ftp://ncbi.nlm.nih.gov/snp/.},
  institution = {National Center for Biotechnology Information, National Library of
	Medicine, National Institutes of Health, Bethesda, MD, 20894, USA.
	sherry@ncbi.nlm.nih.gov},
  keywords = {Animals; Biotechnology; Databases, Factual; Genetic Variation; Humans;
	Information Services; Internet; National Institutes of Health (U.S.);
	National Library of Medicine (U.S.); Polymorphism, Single Nucleotide,
	genetics; United States},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pmid = {11125122},
  timestamp = {2012.03.26}
}

@ARTICLE{alzheimer,
  author = {Tanzi, Rudolph E.},
  title = {The Genetics of Alzheimer Disease},
  journal = {Cold Spring Harbor Perspectives in Medicine},
  year = {2012},
  volume = {2},
  number = {10},
  abstract = {Family history is the second strongest risk factor for Alzheimer disease
	(AD) following advanced age. Twin and family studies indicate that
	genetic factors are estimated to play a role in at least 80% of AD
	cases. The inheritance of AD exhibits a dichotomous pattern. On one
	hand, rare mutations in APP, PSEN1, and PSEN2 virtually guarantee
	early-onset (<60 years) familial AD, which represents ∼5% of AD.
	On the other hand, common gene polymorphisms, such as the ε4 and
	ε2 variants of the APOE gene, can influence susceptibility for ∼50%
	of the common late-onset AD. These four genes account for 30%–50%
	of the inheritability of AD. Genome-wide association studies have
	recently led to the identification of 11 additional AD candidate
	genes. This paper reviews the past, present, and future attempts
	to elucidate the complex and heterogeneous genetic underpinnings
	of AD.},
  doi = {10.1101/cshperspect.a006296},
  eprint = {http://perspectivesinmedicine.cshlp.org/content/2/10/a006296.full.pdf+html},
  url = {http://perspectivesinmedicine.cshlp.org/content/2/10/a006296.abstract}
}

@ARTICLE{Wasson2009,
  author = {Wasson, Katherine},
  title = {{Direct-to-consumer genomics and research ethics: should a more robust
	informed consent process be included?}},
  journal = {The American Journal of Bioethics},
  year = {2009},
  volume = {9},
  pages = {56--58},
  number = {6-7},
  file = {:Users/bastian/Documents/Paper/Wasson/The American Journal of Bioethics/15265160902893965.pdf:pdf},
  publisher = {Taylor \& Francis},
  url = {http://www.tandfonline.com/doi/abs/10.1080/15265160902893965}
}

@ARTICLE{Wicks2010,
  author = {Wicks, Paul and Massagli, Michael and Frost, Jeana and Brownstein,
	Catherine and Okun, Sally and Vaughan, Timothy and Bradley, Richard
	and Heywood, James},
  title = {Sharing health data for better outcomes on PatientsLikeMe.},
  journal = {J Med Internet Res},
  year = {2010},
  volume = {12},
  pages = {e19},
  number = {2},
  abstract = {PatientsLikeMe is an online quantitative personal research platform
	for patients with life-changing illnesses to share their experience
	using patient-reported outcomes, find other patients like them matched
	on demographic and clinical characteristics, and learn from the aggregated
	data reports of others to improve their outcomes. The goal of the
	website is to help patients answer the question: "Given my status,
	what is the best outcome I can hope to achieve, and how do I get
	there?"Using a cross-sectional online survey, we sought to describe
	the potential benefits of PatientsLikeMe in terms of treatment decisions,
	symptom management, clinical management, and outcomes.Almost 7,000
	members from six PatientsLikeMe communities (amyotrophic lateral
	sclerosis [ALS], Multiple Sclerosis [MS], Parkinson's Disease, human
	immunodeficiency virus [HIV], fibromyalgia, and mood disorders) were
	sent a survey invitation using an internal survey tool (PatientsLikeMe
	Lens).Complete responses were received from 1323 participants (19\%
	of invited members). Between-group demographics varied according
	to disease community. Users perceived the greatest benefit in learning
	about a symptom they had experienced; 72\% (952 of 1323) rated the
	site "moderately" or "very helpful." Patients also found the site
	helpful for understanding the side effects of their treatments (n
	= 757, 57\%). Nearly half of patients (n = 559, 42\%) agreed that
	the site had helped them find another patient who had helped them
	understand what it was like to take a specific treatment for their
	condition. More patients found the site helpful with decisions to
	start a medication (n = 496, 37\%) than to change a medication (n
	= 359, 27\%), change a dosage (n = 336, 25\%), or stop a medication
	(n = 290, 22\%). Almost all participants (n = 1,249, 94\%) were diagnosed
	when they joined the site. Most (n = 824, 62\%) experienced no change
	in their confidence in that diagnosis or had an increased level of
	confidence (n = 456, 34\%). Use of the site was associated with increasing
	levels of comfort in sharing personal health information among those
	who had initially been uncomfortable. Overall, 12\% of patients (n
	= 151 of 1320) changed their physician as a result of using the site;
	this figure was doubled in patients with fibromyalgia (21\%, n =
	33 of 150). Patients reported community-specific benefits: 41\% of
	HIV patients (n = 72 of 177) agreed they had reduced risky behaviors
	and 22\% of mood disorders patients (n = 31 of 141) agreed they needed
	less inpatient care as a result of using the site. Analysis of the
	Web access logs showed that participants who used more features of
	the site (eg, posted in the online forum) perceived greater benefit.We
	have established that members of the community reported a range of
	benefits, and that these may be related to the extent of site use.
	Third party validation and longitudinal evaluation is an important
	next step in continuing to evaluate the potential of online data-sharing
	platforms.},
  doi = {10.2196/jmir.1549},
  institution = { Development, 155 2nd Street, Cambridge, MA 02141, USA. pwicks@patientslikeme.com},
  keywords = {Adult; Consumer Participation; Cross-Sectional Studies; Data Display;
	Decision Support Techniques; Disease Management; Female; Health Records,
	Personal; Humans; Information Dissemination, methods; Internet; Male;
	Middle Aged; Online Systems; Physician-Patient Relations; Population
	Surveillance; Rare Diseases, diagnosis/therapy; Self Care, methods;
	Self-Help Groups; Social Support},
  language = {eng},
  medline-pst = {epublish},
  owner = {drsnuggles},
  pii = {v12i2e19},
  pmid = {20542858},
  timestamp = {2013.05.30},
  url = {http://dx.doi.org/10.2196/jmir.1549}
}

@ARTICLE{Wolinsky2005,
  author = {Wolinsky, Howard},
  title = {Do-it-yourself diagnosis.},
  journal = {EMBO Rep},
  year = {2005},
  volume = {6},
  pages = {805--807},
  number = {9},
  month = {Sep},
  __markedentry = {[drsnuggles:]},
  doi = {10.1038/sj.embor.7400508},
  keywords = {Genetic Predisposition to Disease; Genetic Testing, economics/legislation
	/&/ jurisprudence/methods/standards/trends; Humans},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {7400508},
  pmid = {16138089},
  timestamp = {2013.06.03},
  url = {http://dx.doi.org/10.1038/sj.embor.7400508}
}

@ARTICLE{10.1371.journal.pone.0030309,
  author = {Xu, , Bin AND Tong, , Na AND Chen, , Shu-Qiu AND Yang, , Yu AND Zhang,
	, Xiao-Wen AND Liu, , Jin AND Hu, , Xiang-Nong AND Sha, , Guo-Zhu
	AND Chen, , Ming},
  title = {Contribution of HOGG1 Ser326Cys Polymorphism to the Development of
	Prostate Cancer in Smokers: Meta-Analysis of 2779 Cases and 3484
	Controls},
  journal = {PLoS ONE},
  year = {2012},
  volume = {7},
  pages = {e30309},
  number = {1},
  month = {01},
  abstract = {<p>The HOGG1 gene catalyzes the excision of modified bases and removal
	of DNA damage adducts. It may play an important role in the prevention
	of carcinogenesis. Ser<sup>326</sup>Cys polymorphism localizes in
	exon 7 of the hOGG1 gene. It takes the form of an amino acid substitution,
	from serine to cysteine, in codon 326. Several epidemiological association
	studies have been conducted on this polymorphism and its relationship
	with the risk of prostate cancer. However, results have been conflicting.
	To resolve this conflict, we conducted a meta-analysis on the association
	between this polymorphism and prostate cancer, taking into account
	race, country, sources of controls, and smoking status. A total of
	nine studies covering 2779 cases and 3484 controls were included
	in the current meta-analysis. Although no significant association
	was found between hOGG1 Ser<sup>326</sup>Cys polymorphism and prostate
	cancer susceptibility in the pooled analysis, individuals with Ser/Cys+Cys/Cys
	genotypes were found to have greater risk of prostate cancer if they
	were also smokers (OR = 2.66, 95% CI = 1.58−4.47) rather
	than non-smokers (OR = 2.18, 95% CI = 1.13−4.19), compared
	with those with Ser/Ser genotype. In conclusion, our meta-analysis
	demonstrates that hOGG1 Ser<sup>326</sup>Cys polymorphism is a risk
	factor for prostate cancer in smokers. Further studies are needed
	to confirm this relationship.</p>},
  doi = {10.1371/journal.pone.0030309},
  publisher = {Public Library of Science},
  url = {http://dx.doi.org/10.1371%2Fjournal.pone.0030309}
}

@article{Gymrek18012013,
author = {Gymrek, Melissa and McGuire, Amy L. and Golan, David and Halperin, Eran and Erlich, Yaniv}, 
title = {Identifying Personal Genomes by Surname Inference},
volume = {339}, 
number = {6117}, 
pages = {321-324}, 
year = {2013}, 
doi = {10.1126/science.1229566}, 
abstract ={Sharing sequencing data sets without identifiers has become a common practice in genomics. Here, we report that surnames can be recovered from personal genomes by profiling short tandem repeats on the Y chromosome (Y-STRs) and querying recreational genetic genealogy databases. We show that a combination of a surname with other types of metadata, such as age and state, can be used to triangulate the identity of the target. A key feature of this technique is that it entirely relies on free, publicly accessible Internet resources. We quantitatively analyze the probability of identification for U.S. males. We further demonstrate the feasibility of this technique by tracing back with high probability the identities of multiple participants in public sequencing projects.}, 
URL = {http://www.sciencemag.org/content/339/6117/321.abstract}, 
eprint = {http://www.sciencemag.org/content/339/6117/321.full.pdf}, 
journal = {Science} 
}

@ARTICLE{Sweeney2013,
author = {Sweeney, Latanya and Abu, Akua and Winn, Julia},
    title = "{Identifying Participants in the Personal Genome Project by Name (A Re-identification Experiment)}",
  journal = {ArXiv},
archivePrefix = "arXiv",
   eprint = {1304.7605},
 primaryClass = "cs.CY",
 keywords = {Computer Science - Computers and Society, K.4.1, K.6.5, J.3, H.1.2, H.2.0, H.2.7, H.3.5},
     year = 2013,
    month = apr,
   adsurl = {http://adsabs.harvard.edu/abs/2013arXiv1304.7605S},
  adsnote = {Provided by the SAO/NASA Astrophysics Data System}
}

@Article{Joly2013,
AUTHOR = {Joly, Yann and Ngueng Feze, Ida and Simard, Jacques},
TITLE = {Genetic discrimination and life insurance: a systematic review of the evidence},
JOURNAL = {BMC Medicine},
VOLUME = {11},
YEAR = {2013},
NUMBER = {1},
PAGES = {25},
URL = {http://www.biomedcentral.com/1741-7015/11/25},
DOI = {10.1186/1741-7015-11-25},
PubMedID = {23369270},
ISSN = {1741-7015},
ABSTRACT = {BACKGROUND:Since the late 1980s, genetic discrimination has remained one of the major concerns associated with genetic research and clinical genetics. Europe has adopted a plethora of laws and policies, both at the regional and national levels, to prevent insurers from having access to genetic information for underwriting. Legislators from the United States and the United Kingdom have also felt compelled to adopt protective measures specifically addressing genetics and insurance. But does the available evidence really confirm the popular apprehension about genetic discrimination and the subsequent genetic exceptionalism?METHODS:This paper presents the results of a systematic, critical review of over 20 years of genetic discrimination studies in the context of life insurance.RESULTS:The available data clearly document the existence of individual cases of genetic discrimination. The significance of this initial finding is, however, greatly diminished by four observations. First, the methodology used in most of the studies is not sufficiently robust to clearly establish either the prevalence or the impact of discriminatory practices. Second, the current body of evidence was mostly developed around a small number of 'classic' genetic conditions. Third, the heterogeneity and small scope of most of the studies prevents formal statistical analysis of the aggregate results. Fourth, the small number of reported genetic discrimination cases in some studies could indicate that these incidents took place due to occasional errors, rather than the voluntary or planned choice, of the insurers.CONCLUSION:Important methodological limitations and inconsistencies among the studies considered make it extremely difficult, at the moment, to justify policy action taken on the basis of evidence alone. Nonetheless, other empirical and theoretical factors have emerged (for example, the prevalence and impact of the fear of genetic discrimination among patients and research participants, the (un)importance of genetic information for the commercial viability of the private life insurance industry, and the need to develop more equitable schemes of access to life insurance) that should be considered along with the available evidence of genetic discrimination for a more holistic view of the debate.},
}


@article{10.1371/journal.pgen.1002584,
    author = {Pattaro, , Cristian AND Köttgen, , Anna AND Teumer, , Alexander AND Garnaas, , Maija AND Böger, , Carsten A. AND Fuchsberger, , Christian AND Olden, , Matthias AND Chen, , Ming-Huei AND Tin, , Adrienne AND Taliun, , Daniel AND Li, , Man AND Gao, , Xiaoyi AND Gorski, , Mathias AND Yang, , Qiong AND Hundertmark, , Claudia AND Foster, , Meredith C. AND O'Seaghdha, , Conall M. AND Glazer, , Nicole AND Isaacs, , Aaron AND Liu, , Ching-Ti AND Smith, , Albert V. AND O'Connell, , Jeffrey R. AND Struchalin, , Maksim AND Tanaka, , Toshiko AND Li, , Guo AND Johnson, , Andrew D. AND Gierman, , Hinco J. AND Feitosa, , Mary AND Hwang, , Shih-Jen AND Atkinson, , Elizabeth J. AND Lohman, , Kurt AND Cornelis, , Marilyn C. AND Johansson, , Åsa AND Tönjes, , Anke AND Dehghan, , Abbas AND Chouraki, , Vincent AND Holliday, , Elizabeth G. AND Sorice, , Rossella AND Kutalik, , Zoltan AND Lehtimäki, , Terho AND Esko, , Tõnu AND Deshmukh, , Harshal AND Ulivi, , Sheila AND Chu, , Audrey Y. AND Murgia, , Federico AND Trompet, , Stella AND Imboden, , Medea AND Kollerits, , Barbara AND Pistis, , Giorgio AND Harris, , Tamara B. AND Launer, , Lenore J. AND Aspelund, , Thor AND Eiriksdottir, , Gudny AND Mitchell, , Braxton D. AND Boerwinkle, , Eric AND Schmidt, , Helena AND Cavalieri, , Margherita AND Rao, , Madhumathi AND Hu, , Frank B. AND Demirkan, , Ayse AND Oostra, , Ben A. AND de Andrade, , Mariza AND Turner, , Stephen T. AND Ding, , Jingzhong AND Andrews, , Jeanette S. AND Freedman, , Barry I. AND Koenig, , Wolfgang AND Illig, , Thomas AND Döring, , Angela AND Wichmann, , H.-Erich AND Kolcic, , Ivana AND Zemunik, , Tatijana AND Boban, , Mladen AND Minelli, , Cosetta AND Wheeler, , Heather E. AND Igl, , Wilmar AND Zaboli, , Ghazal AND Wild, , Sarah H. AND Wright, , Alan F. AND Campbell, , Harry AND Ellinghaus, , David AND Nöthlings, , Ute AND Jacobs, , Gunnar AND Biffar, , Reiner AND Endlich, , Karlhans AND Ernst, , Florian AND Homuth, , Georg AND Kroemer, , Heyo K. AND Nauck, , Matthias AND Stracke, , Sylvia AND Völker, , Uwe AND Völzke, , Henry AND Kovacs, , Peter AND Stumvoll, , Michael AND Mägi, , Reedik AND Hofman, , Albert AND Uitterlinden, , Andre G. AND Rivadeneira, , Fernando AND Aulchenko, , Yurii S. AND Polasek, , Ozren AND Hastie, , Nick AND Vitart, , Veronique AND Helmer, , Catherine AND Wang, , Jie Jin AND Ruggiero, , Daniela AND Bergmann, , Sven AND Kähönen, , Mika AND Viikari, , Jorma AND Nikopensius, , Tiit AND Province, , Michael AND Ketkar, , Shamika AND Colhoun, , Helen AND Doney, , Alex AND Robino, , Antonietta AND Giulianini, , Franco AND Krämer, , Bernhard K. AND Portas, , Laura AND Ford, , Ian AND Buckley, , Brendan M. AND Adam, , Martin AND Thun, , Gian-Andri AND Paulweber, , Bernhard AND Haun, , Margot AND Sala, , Cinzia AND Metzger, , Marie AND Mitchell, , Paul AND Ciullo, , Marina AND Kim, , Stuart K. AND Vollenweider, , Peter AND Raitakari, , Olli AND Metspalu, , Andres AND Palmer, , Colin AND Gasparini, , Paolo AND Pirastu, , Mario AND Jukema, , J. Wouter AND Probst-Hensch, , Nicole M. AND Kronenberg, , Florian AND Toniolo, , Daniela AND Gudnason, , Vilmundur AND Shuldiner, , Alan R. AND Coresh, , Josef AND Schmidt, , Reinhold AND Ferrucci, , Luigi AND Siscovick, , David S. AND van Duijn, , Cornelia M. AND Borecki, , Ingrid AND Kardia, , Sharon L. R. AND Liu, , Yongmei AND Curhan, , Gary C. AND Rudan, , Igor AND Gyllensten, , Ulf AND Wilson, , James F. AND Franke, , Andre AND Pramstaller, , Peter P. AND Rettig, , Rainer AND Prokopenko, , Inga AND Witteman, , Jacqueline C. M. AND Hayward, , Caroline AND Ridker, , Paul AND Parsa, , Afshin AND Bochud, , Murielle AND Heid, , Iris M. AND Goessling, , Wolfram AND Chasman, , Daniel I. AND Kao, , W. H. Linda AND Fox, , Caroline S. AND CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2)},
    journal = {PLoS Genet},
    publisher = {Public Library of Science},
    title = {Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function},
    year = {2012},
    month = {03},
    volume = {8},
    url = {http://dx.doi.org/10.1371%2Fjournal.pgen.1002584},
    pages = {e1002584},
    abstract = {<title>Author Summary</title><p>Chronic kidney disease (CKD) is an important public health problem with a hereditary component. We performed a new genome-wide association study in up to 130,600 European ancestry individuals to identify genes that may influence kidney function, specifically genes that may influence kidney function differently depending on sex, age, hypertension, and diabetes status of individuals. We uncovered 6 new loci associated with estimated glomerular filtration rate (eGFR), the primary measure of renal function, in or near <italic>MPPED2</italic>, <italic>DDX1</italic>, <italic>SLC47A1</italic>, <italic>CDK12</italic>, <italic>CASP9</italic>, and <italic>INO80</italic>. <italic>CDK12</italic> effect was stronger in younger and absent in older individuals. <italic>MPPED2</italic>, <italic>DDX1</italic>, <italic>SLC47A1</italic>, and <italic>CDK12</italic> loci were associated with eGFR in African ancestry samples as well, highlighting the cross-ethnicity validity of our findings. Using the zebrafish model, we performed morpholino knockdown of <italic>mpped2</italic> and <italic>casp9</italic> in zebrafish embryos and revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. These results further our understanding of the pathogenesis of CKD and provide insights into potential novel mechanisms of disease.</p>},
    number = {3},
    doi = {10.1371/journal.pgen.1002584}
}        

@article{Pinkerton2002,
title = "Ethical approval for multicentre clinical trials in children: contrasting systems in three European countries ",
journal = "European Journal of Cancer ",
volume = "38",
number = "8",
pages = "1051 - 1058",
year = "2002",
note = "",
issn = "0959-8049",
doi = "http://dx.doi.org/10.1016/S0959-8049(02)00021-7",
url = "http://www.sciencedirect.com/science/article/pii/S0959804902000217",
author = "C.R. Pinkerton and S. Ablett and J. Boos and T. Philip",
keywords = "Childhood cancer",
keywords = "Ethical approval",
keywords = "Phase I/II studies",
keywords = "European collaboration "
}