3 results found Sort:

KarchinLab
open-cravat KarchinLab
27
110
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
2,697 commits to master branch, last one 12 days ago
nf-core
raredisease nf-core
35
75
mit
153
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
2,510 commits to master branch, last one about a month ago
charite
jannovar charite
37
55
other
9
Annotation of VCF variants with functional impact and from databases (executable+library)
vcf bioinformatics variant-annotation variant-filtration
Created 2013-07-07
2,134 commits to main branch, last one 6 days ago