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GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

Database : the journal of biological databases and curation - 27 Dec 2024

Weintraub Grisha, Hadar Noam, Gudes Ehud, Dolev Shlomi, Birk Ohad S

Abstract excerpt

Originally developed to meet the challenges of genomic data deluge, GeniePool emerged as a pioneering platform, enabling efficient storage, accessibility, and analysis of vast genomic datasets, enabled due to its data lake architecture. Building on this foundation, GeniePool 2.0 advances genomic analysis through the integration of cutting-edge variant databases, such as CHM13-T2T, AlphaMissense, and gnomAD V4,...

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PMID: 39729312
DOI: 10.1093/database/baae130
PMCID: PMC11673193

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