Search Results - RepositoryStats

37

98

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 3 years ago

18

85

gpl-3.0

3

SNV calling from single cell sequencing

snvs single-cell somatic-variants germline-variants

Created 2022-04-20

316 commits to main branch, last one about a month ago

35

78

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 10 months ago

12

58

other

7

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

316 commits to main branch, last one 2 months ago