Search Results - RepositoryStats

37

95

gpl-3.0

19

Characterization of Germline variants

vep acmg exac gnomad clinvar clinical diseases variants annotations pathogenicity bioinformatics characterization germline-variants pathogenic-variants

Created 2015-10-19

444 commits to master branch, last one 2 years ago

34

73

apache-2.0

4

Snakemake-based workflow for detecting structural variants in genomic data

wgs workflow snakemake sv-calling bioinformatics cancer-genomics hpc-applications somatic-variants germline-variants structural-variants

Created 2017-04-10

474 commits to master branch, last one 4 months ago

16

66

gpl-3.0

3

SNV calling from single cell sequencing

snvs single-cell somatic-variants germline-variants

Created 2022-04-20

301 commits to main branch, last one 6 days ago

12

54

other

8

Cancer Predisposition Sequencing Reporter (CPSR)

vcf acmg cancer docker inherited pathogenicity predisposition reporting-tool cancer-genomics cancer-research pathogenic-loci workflow-engine report-generator germline-variants pathogenic-variants cancer-predisposition genomics-england-panelapp cancer-predisposition-report

Created 2018-08-16

292 commits to main branch, last one 3 days ago