API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows
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Apr 28, 2026 - Python
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variant-interpretation
Here are 12 public repositories matching this topic...
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
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Feb 11, 2025 - Python
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
genetics proteins gene-annotation genes pathogenicity variant-annotations protein-domains pathogenic-variants protein-annotation genetic-tolerance domain-homology variant-interpretation
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Feb 11, 2026 - Python
hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.
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Aug 5, 2021 - 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
Local-first DNA and VCF analysis copilot for evidence-bound genomics workflows, confidence tiers, and Claude/Codex support.
python privacy bioinformatics genomics mcp vcf agents pharmacogenomics genome-analysis variant-interpretation local-first dna-analysis claude-code codex-cli
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Apr 15, 2026 - Python
LLM-based variant interpretation platform built on open-source APIs' integration
python machine-learning biomedical-data-science variant-interpretation gene-disease-associations large-language-models
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Apr 27, 2026 - Python
Mechanism-aware variant interpretation pipeline for monogenic epilepsy: RF + ESM-2 LoRA pathogenicity heads, gain-vs-loss-of-function mechanism classifier, sodium-channel prescribing rule, leave-one-out dynamic-evidence framework.
random-forest lora clinvar pharmacogenomics epilepsy variant-interpretation protein-language-model esm2 clinical-genetics vus-classification acmg-amp sodium-channel missense-variant
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Apr 30, 2026 - Python
GWAS locus visualization and functional annotation workflows for variant interpretation.
visualization python gwas genomics statistical-genetics functional-annotation colocalization variant-interpretation
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Feb 6, 2026 - Python
Aid for explanation of genetic variants in human
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Aug 27, 2018 - Python
A Python implementation of the Minimum Variant Level Data standard
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Aug 25, 2018 - Python
Korean population-aware genomic variant interpretation pipeline — deterministic ACMG/AMP classification with curate-then-narrate AI Clinical Board. Offline, research-use-only.
bioinformatics genomics civic cancer-genomics clinvar pharmacogenomics hpo ngs-pipeline variant-interpretation rare-disease oncokb clinical-genomics local-llm ollama medgemma acmg-amp korean-population amp-tiering
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May 3, 2026 - Python
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