4 results found Sort:

brentp
slivar brentp
23
259
mit
9
genetic variant expressions, annotation, and filtering for great good.
genomics rare-disease variant-analysis rare-variant-analysis variant-interpretation
Created 2018-12-17
444 commits to master branch, last one 27 days ago
nf-core
raredisease nf-core
44
97
mit
178
Call and score variants from WGS/WES of rare disease patients.
snv wes wgs nf-core nextflow pipeline workflow diagnostics rare-disease variant-calling variant-annotation structural-variants
Created 2021-06-21
2,934 commits to master branch, last one about a month ago
brentp
rare-disease-wf brentp
8
60
mit
7
(WIP) best-practices workflow for rare disease
genomics variants rare-disease
Created 2021-04-14
197 commits to main branch, last one 2 years ago
mims-harvard
SHEPHERD mims-harvard
19
52
mit
7
SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
patients embeddings rare-disease deep-learning knowledge-graph medical-diagnosis graph-neural-networks graph-representation-learning
Created 2022-08-26
107 commits to main branch, last one 7 months ago