Characterization of Germline variants
bioinformatics annotations clinical variants characterization pathogenicity clinvar vep diseases pathogenic-variants germline-variants exac acmg gnomad
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Mar 15, 2022 - Python
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acmg
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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
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Oct 19, 2025 - R
Bitscopic Interpreting ACMG 2015 Standards
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Nov 10, 2025 - Python
Tool for automated classification of genetic variants according to ACMG criteria.
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Sep 9, 2024 - Python
A research-oriented, transparent, and extensible variant interpretation pipeline implementing ACMG/AMP 2015 & 2023 guidelines.
python bioinformatics genomics data-analysis variant-calling genetic-analysis variant-analysis bioinformatics-algorithms acmg bioinformatics-tool variant-interpretation acmg-guidelines variant-classification clinical-genetics
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Dec 3, 2025 - Python
The newest iteration of my personal web app.
react typescript genetics mdx v0 prisma acmg tailwindcss shadcn-ui acmg-guidelines reactservercomponents nextjs15
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Feb 2, 2025 - TypeScript
Aid for explanation of genetic variants in human
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Aug 27, 2018 - Python
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