ding-lab / CharGer Star 94 Code Issues Pull requests Characterization of Germline variants bioinformatics annotations clinical variants characterization pathogenicity clinvar vep diseases pathogenic-variants germline-variants exac acmg gnomad Updated Mar 15, 2022 Python
sigven / cpsr Star 53 Code Issues Pull requests Cancer Predisposition Sequencing Reporter (CPSR) docker cancer workflow-engine vcf cancer-genomics pathogenicity cancer-research report-generator pathogenic-variants germline-variants acmg inherited reporting-tool predisposition cancer-predisposition pathogenic-loci genomics-england-panelapp cancer-predisposition-report Updated May 30, 2024 R
liserjrqlxue / anno2xlsx Star 5 Code Issues Pull requests 汇总临床全外分析结果,进行部分注释处理,生成下游解读系统需要的表格文件 xlsx annotate acmg aes-json Updated Jul 5, 2023 Go
TheSergeyPixel / Diablo_ACMG Star 2 Code Issues Pull requests Tool for automated classification of genetic variants according to ACMG criteria. python classification germline-variants acmg Updated Mar 5, 2024 Python
ronaldosfjunior / VarSleuth Star 0 Code Issues Pull requests An R package for interpreting genetic variants according to the ACMG guidelines. vcf r-package clinvar genetic-variants vcf-files acmg rare-variant-analysis hgmd gnomad genetic-diagnosis genetic-diseases acmg-guidelines Updated Jul 22, 2023 R
GeneGee / explanation-of-variants Star 0 Code Issues Pull requests Aid for explanation of genetic variants in human genetic acmg variant-interpretation hereditary Updated Aug 27, 2018 Python