1000 Genomes Project Dataset

概要

This tool serves as a gateway to the extensive 1000 Genomes Project dataset, offering real-time, natural language access to over 138 million unique variants and hundreds of billions of individual genotypes. Implemented as a Java EE service and accessible via Dnaerys variant store, it enables comprehensive analysis through variant, sample, and genotype selection based on coordinates, annotations (VEP, ClinVar, gnomAD AF, AlphaMissense), and inheritance models. Researchers can deploy it remotely or locally to conduct intricate genomic studies, identify disease modifiers, reclassify variants, and explore complex genetic burdens.

主な機能

• 1 GitHub stars
• Real-time access to 138 million unique variants and 442 billion individual genotypes across 3202 samples
• Variant, sample, and genotype selection based on coordinates, annotations, and zygosity
• Filtering by VEP, ClinVar, gnomAD AF, and AlphaMissense annotations
• Filtering by inheritance models (de novo, heterozygous dominant, homozygous recessive)
• Available via Streamable HTTP, HTTP/SSE, and STDIO transports for flexible deployment

ユースケース

• Identify potential modifier variants for well-known pathogenic alleles, altering severity or penetrance
• Reclassify variants of uncertain significance (VUS) from ClinVar based on AlphaMissense predictions and population frequency
• Calculate mutational load and analyze compensatory mechanisms for complex genetic disorders like Bardet-Biedl Syndrome