acmg

Characterization of Germline variants

Cancer Predisposition Sequencing Reporter (CPSR)

Bitscopic Interpreting ACMG Standards 2015

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.

Tool for automated classification of genetic variants according to ACMG criteria.

汇总临床全外分析结果，进行部分注释处理，生成下游解读系统需要的表格文件

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.

Multi-source germline variant annotation pipeline

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.

Drafts ACMG/AMP variant classifications for a human curator: gathers genomics evidence, adjudicates each criterion with Claude, computes the label in code via ClinGen points, and shows every source.

Calibrate functional/in-silico variant scores into ACMG clinical evidence strengths (ClinGen-SVI), with LDLR/AlphaMissense worked example

Whole-genome sequencing pipeline: FASTQ to clinical variant report. GATK4 best practices, ACMG/AMP classification.

Research-only rare-disease evidence infrastructure, currently implemented and evaluated for TSC1/TSC2. Builds reproducible variant evidence packets, leakage-safe validation controls, and a source-grounded Mechanism Atlas. Not a clinical or diagnostic system; issues no authoritative variant classifications.

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

One-directional functional evidence in RASopathy variant classification: an audit of ClinGen RASopathy VCEP classifications, reproducible from public ClinVar, MaveDB, and UniProt data.

Track 1 submission for the Rare Disease, Real Kid MVA Hackathon 2026 — a pathogenic BUB1B allele recovered from single-sample WGS, with the second allele and phase reported as unresolved.

A simple CLI for decyphering ACMG codes and scores

Narrows 2.3M ClinVar variants of uncertain significance to 306 cardiovascular reclassification candidates, combining gnomAD population frequencies with AlphaMissense predictions across 71.7M scored variants.

An open-source Java implementation of the Animal Variant Classification Guidelines (AVCG).