Results for “gnomad”

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Annotates VCF variants using Ensembl VEP, ClinVar, and gnomAD, ranks them by predicted impact, and generates a reproducible report.

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Query the 1000 Genomes Project dataset at the individual participant level to find variants, carriers, and relatedness information.

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Index local folders and search documents with BM25, vector, or hybrid queries, plus AI answers with citations and a web UI.

Queries the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants, returning variants, carriers, and relatedness with allele frequencies and annotations.