Characterization of Germline variants
🧬 Open-source genotype analysis toolkit
An Open Source Web Application for Genetic Data (SNPs) Data Crawling
Variant Agents: Multi-Agent Genomic Analysis
An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).
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.
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.
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
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.
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…
Clinical VCF variant annotation platform integrating Ensembl VEP, ClinVar, 3D PDB structural mapping, pharmacogenomics (PGx), and precision oncology clinical trials.
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.
BioMed MCP over AlphaFold DB + 8 public sources, with SQLite knowledge graph, offline mode, and explicit clinical-use limits.
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