GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.

doi:10.1093/nar/gkac076

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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.

Nucleic acids research - 21 Mar 2022

Valls-Margarit Jordi, Galván-Femenía Iván, Matías-Sánchez Daniel, Blay Natalia, Puiggròs Montserrat, Carreras Anna, Salvoro Cecilia, Cortés Beatriz, Amela Ramon, Farre Xavier, Lerga-Jaso Jon, Puig Marta, Sánchez-Herrero Jose Francisco, Moreno Victor, Perucho Manuel, Sumoy Lauro, Armengol Lluís, Delaneau Olivier, Cáceres Mario, de Cid Rafael, Torrents David

Abstract excerpt

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map focused on the identification, characterization, and phasing of...

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PMID: 35176773
DOI: 10.1093/nar/gkac076
PMCID: PMC8934637

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