Automatic classification of sequence variants and CNVs according to ACMG criteria.
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Sep 30, 2024 - Python
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acmg-guidelines
Here are 7 public repositories matching this topic...
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
bioinformatics variant hearing-loss human-genetics research-only pathogenicity-classification acmg-guidelines
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May 14, 2025 - Python
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
python bioinformatics genetics clinvar variant-annotations hgvs gnomad vep-annotation acmg-guidelines
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Oct 10, 2025 - Python
Identification of cancer-causing variants
bioinformatics annotations clinical dbsnp variants cancer-genomics clinvar diseases cancer-research grch37 cancer-detection allele-frequencies conservation-scores functional-prediction pathogenic-variants dbnsfp gnomad clinical-significance hereditary-cancer-syndrome acmg-guidelines
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Apr 19, 2024 - Python
An R package and Colab notebook for functional score calibration to ACMG/AMP evidence strength
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Oct 8, 2025 - R
🧬 A user-guided, interactive ACMG/AMP variant classification assistant integrating clinical and in silico data for pathogenicity estimation.
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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Oct 7, 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
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