Provides natural language access and advanced filtering capabilities for the 1000 Genomes Project dataset.
Sponsored
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.
Key Features
011 GitHub stars
02Real-time access to 138 million unique variants and 442 billion individual genotypes across 3202 samples
03Variant, sample, and genotype selection based on coordinates, annotations, and zygosity
04Filtering by VEP, ClinVar, gnomAD AF, and AlphaMissense annotations
05Filtering by inheritance models (de novo, heterozygous dominant, homozygous recessive)
06Available via Streamable HTTP, HTTP/SSE, and STDIO transports for flexible deployment
Use Cases
01Identify potential modifier variants for well-known pathogenic alleles, altering severity or penetrance
02Reclassify variants of uncertain significance (VUS) from ClinVar based on AlphaMissense predictions and population frequency
03Calculate mutational load and analyze compensatory mechanisms for complex genetic disorders like Bardet-Biedl Syndrome
