Clinical genomics web app to visualize & prioritize exome VCF variants on protein structures — published in Bioinformatics (2019)
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.
Calibrate functional/in-silico variant scores into ACMG clinical evidence strengths (ClinGen-SVI), with LDLR/AlphaMissense worked example
MCP + FastAPI server grounding gene-disease validity questions in Gene Curation Coalition (GenCC) data — local SQLite+FTS5, consensus & conflict detection, 10 MCP tools
Interactive web-based tool for visualizing gene variants, protein domains & annotations – no coding required. Customize maps, highlight variants, export SVG/PNG.
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.
Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.
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