rare-diseases

There are 1 repository under rare-diseases topic.

greenelab / multi-plier
An unsupervised transfer learning approach for rare disease transcriptomics
bioinformatics-analysis gene-expression-signatures machine-learning multiplier plier rare-diseases analysis methodology dataset
Language:HTML 42
demoronator / DiagnosisAssistant
AI Diagnosis Assistant for Diagnosing Rare Diseases
diagnosis hpo orphanet rare-diseases symptom disease iubdc pronto artificial-intelligence big-data health-informatics machine-learning named-entity-recognition
Language:Python 5
BIH-CEI / ERKER2Phenopackets
A pipeline of ERKER data into the phenopackets data structure.
phenopackets-v2 pipeline rare-diseases
Language:Python 4
KohlbacherLab / dnpm-dip-portal
This repository contains client libraries, modules and the portal for DNPM DIP.
dnpm mtb patient-search rare-diseases
Language:Vue
mrueda / ScrippsCall
SRTI framework to perform variant calling and prioritization of WES
bioinformatics genomics mtdna rare-diseases wes cardiovascular-genomics sudden-death
Language:Perl