3 results found Sort:

ding-lab
CharGer ding-lab
37
96
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
Genotek
ClassifyCNV Genotek
14
60
other
8
ClassifyCNV: a tool for clinical annotation of copy-number variants
cnv deletion annotations duplication pathogenicity bioinformatics clinical-genomics copy-number-variation
Created 2020-07-15
21 commits to master branch, last one about a year ago
sigven
cpsr sigven
12
56
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
309 commits to main branch, last one 16 hours ago