1000 Genomes Project Dataset MCP Server
Natural language access to 1000 Genomes Project dataset, hosted online in Dnaerys variant store
Sequenced & aligned by New York Genome Center (GRCh38). 3202 samples: 2504 unrelated samples from phase three panel + 698 samples from 602 family trios - dataset details
Key Features
real-time access to 138 044 723 unique variants and ~442 billion individual genotypes
variant, sample and genotype selection based on coordinates, annotations, zygosity, population
filtering by VEP (impact, biotype, feature type, variant class, consequences), ClinVar Clinical Significance (202502), gnomADe + gnomADg 4.1, AlphaMissense Score & AlphaMissense Class annotations
- annotated with VEP 115 / GENCODE 49
- GENCODE Primary set transcripts
- full annotation composition
returned variants annotated with HGVSp, gnomADe + gnomADg, AlphaMissense score + cohort-wide statistics
- HGVSp annotations are for Canonical transcripts to reduce LLMs cognitive load
samples annotated with: familyId, gender, paternalId, maternalId, relationship, children, population, superpopulation, phase3 indicator
