Variant calling in polyploids for population and quantitative genetics

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Main Author: Alyssa R. Phillips
Format: Artículo Open Access
Published: Wiley 2024
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author Alyssa R. Phillips
author_facet Alyssa R. Phillips
Alyssa R. Phillips
collection Wiley Open Access
contents Variant calling in polyploids for population and quantitative genetics Alyssa R. Phillips Applications in Plant Sciences AbstractAdvancements in genome assembly and sequencing technology have made whole genome sequence (WGS) data and reference genomes accessible to study polyploid species. Compared to popular reduced‐representation sequencing approaches, the genome‐wide coverage and greater marker density provided by WGS data can greatly improve our understanding of polyploid species and polyploid biology. However, biological features that make polyploid species interesting also pose challenges in read mapping, variant identification, and genotype estimation. Accounting for characteristics in variant calling like allelic dosage uncertainty, homology between subgenomes, and variance in chromosome inheritance mode can reduce errors. Here, I discuss the challenges of variant calling in polyploid WGS data and discuss where potential solutions can be integrated into a standard variant calling pipeline. 10.1002/aps3.11607 http://creativecommons.org/licenses/by-nc/4.0/
doi_str_mv 10.1002/aps3.11607
format Artículo Open Access
id wiley_oa_10_1002_aps3_11607
institution Wiley Open Access
license_str_mv http://creativecommons.org/licenses/by-nc/4.0/
publishDate 2024
publisher Wiley
record_format wiley_oa
spellingShingle Variant calling in polyploids for population and quantitative genetics
Alyssa R. Phillips
Applications in Plant Sciences
Variant calling in polyploids for population and quantitative genetics Alyssa R. Phillips Applications in Plant Sciences AbstractAdvancements in genome assembly and sequencing technology have made whole genome sequence (WGS) data and reference genomes accessible to study polyploid species. Compared to popular reduced‐representation sequencing approaches, the genome‐wide coverage and greater marker density provided by WGS data can greatly improve our understanding of polyploid species and polyploid biology. However, biological features that make polyploid species interesting also pose challenges in read mapping, variant identification, and genotype estimation. Accounting for characteristics in variant calling like allelic dosage uncertainty, homology between subgenomes, and variance in chromosome inheritance mode can reduce errors. Here, I discuss the challenges of variant calling in polyploid WGS data and discuss where potential solutions can be integrated into a standard variant calling pipeline. 10.1002/aps3.11607 http://creativecommons.org/licenses/by-nc/4.0/
title Variant calling in polyploids for population and quantitative genetics
topic Applications in Plant Sciences
url https://bsapubs.onlinelibrary.wiley.com/doi/10.1002/aps3.11607