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

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Version: Final published version
License: CC BY-NC 4.0
Serval ID
serval:BIB_F0C33E12626F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Journal
Nucleic acids research
Author(s)
Valls-Margarit J., Galván-Femenía I., Matías-Sánchez D., Blay N., Puiggròs M., Carreras A., Salvoro C., Cortés B., Amela R., Farre X., Lerga-Jaso J., Puig M., Sánchez-Herrero J.F., Moreno V., Perucho M., Sumoy L., Armengol L., Delaneau O., Cáceres M., de Cid R., Torrents D.
ISSN
1362-4962 (Electronic)
ISSN-L
0305-1048
Publication state
Published
Issued date
21/03/2022
Peer-reviewed
Oui
Volume
50
Number
5
Pages
2464-2479
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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 structural variants (SVs). By integrating multiple variant identification methods and Logistic Regression Models (LRMs), we present a catalogue of 35 431 441 variants, including 89 178 SVs (≥50 bp), 30 325 064 SNVs and 5 017 199 indels, across 785 Illumina high coverage (30x) whole-genomes from the Iberian GCAT Cohort, containing a median of 3.52M SNVs, 606 336 indels and 6393 SVs per individual. The haplotype panel is able to impute up to 14 360 728 SNVs/indels and 23 179 SVs, showing a 2.7-fold increase for SVs compared with available genetic variation panels. The value of this panel for SVs analysis is shown through an imputed rare Alu element located in a new locus associated with Mononeuritis of lower limb, a rare neuromuscular disease. This study represents the first deep characterization of genetic variation within the Iberian population and the first operational haplotype panel to systematically include the SVs into genome-wide genetic studies.
Keywords
Acyltransferases, Genome, Human, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Lipase, Polymorphism, Single Nucleotide, Whole Genome Sequencing/methods
Pubmed
Web of science
Open Access
Yes
Create date
28/02/2022 12:03
Last modification date
25/01/2024 8:47
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