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 9 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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Dec 4, 2025 - Python
ACMG Assistant is a student-level, research-oriented variant classification tool developed to explore the practical application of ACMG/AMP 2015 and 2023 guidelines. It combines automated retrieval of annotation data from public APIs with structured interactive evidence collection to support systematic variant interpretation.
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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Mar 14, 2026 - Python
An R package and Colab notebook for functional score calibration to ACMG/AMP evidence strength
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Mar 27, 2026 - R
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
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
GATK-based WES pipeline for variant calling and ACMG classification of rare disease cohorts (Wilson's, ASD, EEP, DMD) at CSIR-IGIB
python bash bioinformatics genomics gatk variant-calling wes ngs-analysis rare-diseases acmg-guidelines
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May 23, 2026 - Shell
Multi-modal AI agent skill and interactive HTML5/WebGL dashboard workbench for quantifying, visualizing, and interpreting regulatory consequences of human genetic variants across 11 molecular modalities.
python webgl bioinformatics transcription-factors deep-learning genomics computational-biology data-visualization gene-regulation molecular-biology precision-medicine epigenomics dna-sequence-analysis variant-interpretation splicing acmg-guidelines interactive-dashboard agent-skill in-silico-mutagenesis genomic-browser
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Sep 8, 2026 - HTML
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