greenelab / multi-plier Star 44 Code Issues Pull requests An unsupervised transfer learning approach for rare disease transcriptomics machine-learning analysis dataset methodology bioinformatics-analysis gene-expression-signatures multiplier plier rare-diseases Updated Jan 27, 2020 HTML
demoronator / DiagnosisAssistant Star 5 Code Issues Pull requests AI Diagnosis Assistant for Diagnosing Rare Diseases machine-learning big-data pronto artificial-intelligence named-entity-recognition disease diagnosis hpo health-informatics orphanet symptom rare-diseases iubdc Updated Sep 16, 2023 Python
BIH-CEI / ERKER2Phenopackets Star 4 Code Issues Pull requests A pipeline of ERKER data into the phenopackets data structure. pipeline rare-diseases phenopackets-v2 Updated Dec 29, 2023 Python
mrueda / ScrippsCall Star 0 Code Issues Pull requests SRTI framework to perform variant calling and prioritization of WES bioinformatics genomics wes mtdna rare-diseases sudden-death cardiovascular-genomics Updated Dec 9, 2021 Perl
KohlbacherLab / dnpm-dip-portal Star 0 Code Issues Pull requests This repository contains client libraries, modules and the portal for DNPM DIP. mtb dnpm rare-diseases patient-search Updated Oct 18, 2024 Vue