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Article

HGVA: the Human Genome Variation Archive.

Nucleic acids research - 3 Jul 2017

Lopez Javier, Coll Jacobo, Haimel Matthias, Kandasamy Swaathi, Tarraga Joaquin, Furio-Tari Pedro, Bari Wasim, Bleda Marta, Rueda Antonio, Gräf Stefan, Rendon Augusto, Dopazo Joaquin, Medina Ignacio

Abstract excerpt

High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation...

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PMID: 28535294
DOI: 10.1093/nar/gkx445
PMCID: PMC5570161

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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