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Widespread Deviant Patterns of Heterozygosity in Whole-Genome Sequencing Due to Autopolyploidy, Repeated Elements, and Duplication.

Genome biology and evolution - 1 Dec 2023

Dallaire Xavier, Bouchard Raphael, Hénault Philippe, Ulmo-Diaz Gabriela, Normandeau Eric, Mérot Claire, Bernatchez Louis, Moore Jean-Sébastien

Abstract excerpt

Most population genomic tools rely on accurate single nucleotide polymorphism (SNP) calling and filtering to meet their underlying assumptions. However, genomic complexity, resulting from structural variants, paralogous sequences, and repetitive elements, presents significant challenges in assembling contiguous reference genomes. Consequently, short-read resequencing studies can encounter mismapping issues,...

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PMID: 38085037
DOI: 10.1093/gbe/evad229
PMCID: PMC10752349

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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