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27

115

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

2,725 commits to master branch, last one 23 days ago

34

90

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 2 months ago

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

2,165 commits to main branch, last one 16 days ago