从低覆盖率的虹鳟全基因组测序数据中准确推算基因型。

IF 2.1 3区 生物学 Q3 GENETICS & HEREDITY
Sixin Liu, Kyle E Martin, Warren M Snelling, Roseanna Long, Timothy D Leeds, Roger L Vallejo, Gregory D Wiens, Yniv Palti
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引用次数: 0

摘要

随着下一代测序技术的快速发展和成本的大幅降低,低覆盖率全基因组测序(lcWGS)和基因型归因正成为 SNP(单核苷酸多态性)阵列基因分型的一种经济有效的替代方法。本研究的目标有两个:1)根据虹鳟(Oncorhynchus mykiss)的 lcWGS 数据构建一个用于基因型归纳的单倍型参考面板;2)评估两个育种群体中归纳基因型与 SNP 阵列基因型之间的一致性。从代表不同产卵日期的五个繁殖种群的共 410 条鱼中获得了中等覆盖率(12 倍)的全基因组序列。短读序列被映射到虹鳟参考基因组,并使用 GATK 鉴定遗传变异。经过数据过滤后,保留了 20,434,612 个双倍序列 SNP。参考面板用 SHAPEIT5 进行了分期,并用作使用 GLIMPSE2 从 lcWGS 数据推算基因型的参考。对来自 Troutlodge 11 月繁殖种群的 90 条鱼进行了测序,平均覆盖率为 1.3 倍,这些鱼也用 Axiom 57K 虹鳟 SNP 阵列进行了基因分型。基于阵列的基因型与推算的基因型之间的一致性为 99.1%。在将覆盖率降低到 0.5 倍、0.2 倍和 0.1 倍后,基于阵列的基因型与估算基因型的一致性分别为 98.7%、97.8% 和 96.7%。在美国农业部的奇数年繁殖种群中,109 尾鱼的阵列基因型与推算基因型的一致性为 97.8%,覆盖率为 0.5 倍。因此,本研究中报告的参考单倍型面板可用于从虹鳟育种群体的 lcWGS 数据中准确推算基因型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Accurate genotype imputation from low-coverage whole-genome sequencing data of rainbow trout.

With the rapid and significant cost reduction of next-generation sequencing, low-coverage whole-genome sequencing (lcWGS), followed by genotype imputation, is becoming a cost-effective alternative to single-nucleotide polymorphism (SNP)-array genotyping. The objectives of this study were 2-fold: (1) construct a haplotype reference panel for genotype imputation from lcWGS data in rainbow trout (Oncorhynchus mykiss); and (2) evaluate the concordance between imputed genotypes and SNP-array genotypes in 2 breeding populations. Medium-coverage (12×) whole-genome sequences were obtained from a total of 410 fish representing 5 breeding populations with various spawning dates. The short-read sequences were mapped to the rainbow trout reference genome, and genetic variants were identified using GATK. After data filtering, 20,434,612 biallelic SNPs were retained. The reference panel was phased with SHAPEIT5 and was used as a reference to impute genotypes from lcWGS data employing GLIMPSE2. A total of 90 fish from the Troutlodge November breeding population were sequenced with an average coverage of 1.3×, and these fish were also genotyped with the Axiom 57K rainbow trout SNP array. The concordance between array-based genotypes and imputed genotypes was 99.1%. After downsampling the coverage to 0.5×, 0.2×, and 0.1×, the concordance between array-based genotypes and imputed genotypes was 98.7, 97.8, and 96.7%, respectively. In the USDA odd-year breeding population, the concordance between array-based genotypes and imputed genotypes was 97.8% for 109 fish downsampled to 0.5× coverage. Therefore, the reference haplotype panel reported in this study can be used to accurately impute genotypes from lcWGS data in rainbow trout breeding populations.

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来源期刊
G3: Genes|Genomes|Genetics
G3: Genes|Genomes|Genetics GENETICS & HEREDITY-
CiteScore
5.10
自引率
3.80%
发文量
305
审稿时长
3-8 weeks
期刊介绍: G3: Genes, Genomes, Genetics provides a forum for the publication of high‐quality foundational research, particularly research that generates useful genetic and genomic information such as genome maps, single gene studies, genome‐wide association and QTL studies, as well as genome reports, mutant screens, and advances in methods and technology. The Editorial Board of G3 believes that rapid dissemination of these data is the necessary foundation for analysis that leads to mechanistic insights. G3, published by the Genetics Society of America, meets the critical and growing need of the genetics community for rapid review and publication of important results in all areas of genetics. G3 offers the opportunity to publish the puzzling finding or to present unpublished results that may not have been submitted for review and publication due to a perceived lack of a potential high-impact finding. G3 has earned the DOAJ Seal, which is a mark of certification for open access journals, awarded by DOAJ to journals that achieve a high level of openness, adhere to Best Practice and high publishing standards.
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