Characterization of Germline variants
An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).
An Open Source Web Application for Genetic Data (SNPs) Data Crawling
Variant Agents: Multi-Agent Genomic Analysis
🧬 Open-source genotype analysis toolkit
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. 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
Whole genome sequencing analysis pipeline for consumer hardware. 100% local, Docker-powered, free and open source.
Short Linear Motif (SLiM) Analysis in the context of human diseases
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…
Candidate flanking-SNP marker panels for PGT-M linkage before an experiment. After one, parent of origin from SNP arrays, and a parental genotype reconstructed from haploid cells. Research use only.
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.
BioMed MCP over AlphaFold DB + 8 public sources, with SQLite knowledge graph, offline mode, and explicit clinical-use limits.
Identification of cancer-causing variants
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