Characterization of Germline variants
An Open Source Web Application for Genetic Data (SNPs) Data Crawling
Variant Agents: Multi-Agent Genomic Analysis
Whole genome sequencing analysis pipeline for consumer hardware. 100% local, Docker-powered, free and open source.
🧬 Open-source genotype analysis toolkit. The open-source Promethease replacement.
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
ClinVar Submission API Made Easy
Multi-agent AI platform for biomedical & genomic research — query PubMed, ClinVar, Ensembl, UniProt and 10+ scientific databases with natural language.
🧬 Open-source genotype analysis toolkit
Short Linear Motif (SLiM) Analysis in the context of human diseases
An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).
A bioinformatics pipeline to identify the best available PDB structures for all available variants for specified genes of interest
R script to 1) Extract missense variants that had been observed in "clinical testing" (as opposed to "literature only") in ClinVar. 2) Calculating movability and reappearance parameters using the aggregated and capped Invitae variant counts. 3) Apply the movability and reappearance parameters to ClinVar genes, calculating their movability- and r…
Privacy-first genetic exploration dashboard. Analyze raw DNA from 23andMe, AncestryDNA, MyHeritage, and Genera against ClinVar + PharmGKB — entirely on your machine. Optional local AI interpretation via Ollama and PT-BR neural translation via Argos.
Identification of cancer-causing variants
AlphaFold MCP server composing 8 biomedical sources into a local knowledge graph
Data repository for NeurIPS 2022 LMRL workshop paper.
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