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rare-diseases

Here are 5 public repositories matching this topic...

greenelab / multi-plier

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

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

A pipeline of ERKER data into the phenopackets data structure.

pipeline rare-diseases phenopackets-v2

Updated Dec 29, 2023
Python

mrueda / ScrippsCall

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

This repository contains client libraries, modules and the portal for DNPM DIP.

mtb dnpm rare-diseases patient-search

Updated Nov 6, 2024
Vue

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