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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

13

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

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