4 results found Sort:

brentp
slivar brentp
23
254
mit
11
genetic variant expressions, annotation, and filtering for great good.
genomics rare-disease variant-analysis rare-variant-analysis variant-interpretation
Created 2018-12-17
443 commits to master branch, last one 8 months ago
nf-core
raredisease nf-core
37
93
mit
157
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
2,676 commits to master branch, last one 4 months ago
brentp
rare-disease-wf brentp
8
60
mit
8
(WIP) best-practices workflow for rare disease
genomics variants rare-disease
Created 2021-04-14
197 commits to main branch, last one about a year ago
mims-harvard
SHEPHERD mims-harvard
16
50
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 5 months ago