3 results found Sort:

KarchinLab
open-cravat KarchinLab
28
116
mit
21
A modular annotation tool for genomic variants
python python3 genomics javascript bioinformatics annotation-tool variant-analysis variant-annotation bioinformatics-tool variant-annotations genomic-data-analysis bioinformatics-pipeline
Created 2018-07-03
2,754 commits to master branch, last one 4 days ago
nf-core
raredisease nf-core
35
91
mit
158
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 3 months ago
charite
jannovar charite
35
58
other
8
Annotation of VCF variants with functional impact and from databases (executable+library)
vcf bioinformatics variant-annotation variant-filtration
Created 2013-07-07
2,170 commits to main branch, last one 5 days ago