多倍体中的变异调用,用于群体遗传学和数量遗传学

IF 2.7 3区 生物学 Q2 PLANT SCIENCES
Alyssa R. Phillips
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引用次数: 0

摘要

基因组组装和测序技术的进步使得全基因组序列(WGS)数据和参考基因组可以用于研究多倍体物种。与流行的降低代表性测序方法相比,WGS 数据提供的全基因组覆盖率和更高的标记密度可以大大提高我们对多倍体物种和多倍体生物学的认识。然而,使多倍体物种变得有趣的生物学特征也给读图、变异识别和基因型估计带来了挑战。考虑等位基因剂量的不确定性、亚基因组之间的同源性以及染色体遗传模式的差异等变异调用特征可以减少误差。在此,我将讨论在多倍体 WGS 数据中进行变异调用所面临的挑战,并探讨可将哪些潜在解决方案整合到标准变异调用管道中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Variant calling in polyploids for population and quantitative genetics

Variant calling in polyploids for population and quantitative genetics

Advancements 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.

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来源期刊
CiteScore
7.30
自引率
0.00%
发文量
50
审稿时长
12 weeks
期刊介绍: Applications in Plant Sciences (APPS) is a monthly, peer-reviewed, open access journal promoting the rapid dissemination of newly developed, innovative tools and protocols in all areas of the plant sciences, including genetics, structure, function, development, evolution, systematics, and ecology. Given the rapid progress today in technology and its application in the plant sciences, the goal of APPS is to foster communication within the plant science community to advance scientific research. APPS is a publication of the Botanical Society of America, originating in 2009 as the American Journal of Botany''s online-only section, AJB Primer Notes & Protocols in the Plant Sciences. APPS publishes the following types of articles: (1) Protocol Notes describe new methods and technological advancements; (2) Genomic Resources Articles characterize the development and demonstrate the usefulness of newly developed genomic resources, including transcriptomes; (3) Software Notes detail new software applications; (4) Application Articles illustrate the application of a new protocol, method, or software application within the context of a larger study; (5) Review Articles evaluate available techniques, methods, or protocols; (6) Primer Notes report novel genetic markers with evidence of wide applicability.
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