Characterization of Germline variants
Cancer Predisposition Sequencing Reporter (CPSR)
Bitscopic Interpreting ACMG Standards 2015
Tool for automated classification of genetic variants according to ACMG criteria.
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.
The newest iteration of my personal web app.
Five Google ADK / Agent Builder agents watching genomic evidence (ClinVar, gnomAD, AlphaMissense) synced via the Fivetran MCP and, the moment a Variant of Uncertain Significance is reclassified, recompute a calibrated ACMG posterior to draft the patient recontact + family cascade no system sends today. Draft-only, FHIR R4, human-in-the-loop.
Agentic clinical variant interpretation copilot: drafts ACMG/AMP classifications with cited evidence, evaluated against ClinVar gold labels. RAG + LLM eval + LLMOps.
R pipeline for population-specific variant frequency analysis using gnomAD data — includes MAF calculation, Fisher's Exact Test with Bonferroni correction, and bubble plot visualization across 11 global populations
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Aid for explanation of genetic variants in human
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