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从非模式生物的单基因组和多重基因组组装中发现单核苷酸多态性

SNP Discovery from Single and Multiplex Genome Assemblies of Non-model Organisms.

作者信息

Morin Phillip A, Foote Andrew D, Hill Christopher M, Simon-Bouhet Benoit, Lang Aimee R, Louis Marie

机构信息

Southwest Fisheries Science Center, National Marine Fisheries Service, National Oceanic and Atmospheric Administration, 8901 La Jolla Shores Drive, La Jolla, CA, 92037, USA.

Molecular Ecology and Fisheries Genetics Laboratory, School of Biological Sciences, Bangor University, Bangor, Gwynedd, LL57 2UW, UK.

出版信息

Methods Mol Biol. 2018;1712:113-144. doi: 10.1007/978-1-4939-7514-3_9.

Abstract

Population genetic studies of non-model organisms often rely on initial ascertainment of genetic markers from a single individual or a small pool of individuals. This initial screening has been a significant barrier to beginning population studies on non-model organisms (Aitken et al., Mol Ecol 13:1423-1431, 2004; Morin et al., Trends Ecol Evol 19:208-216, 2004). As genomic data become increasingly available for non-model species, SNP ascertainment from across the genome can be performed directly from published genome contigs and short-read archive data. Alternatively, low to medium genome coverage from shotgun NGS library sequencing of single or pooled samples, or from reduced-representation libraries (e.g., capture enrichment; see Ref. "Hancock-Hanser et al., Mol Ecol Resour 13:254-268, 2013") can produce sufficient new data for SNP discovery with limited investment. We describe protocols for assembly of short read data to reference or related species genome contig sequences, followed by SNP discovery and filtering to obtain an optimal set of SNPs for population genotyping using a variety of downstream high-throughput genotyping methods.

摘要

对非模式生物的群体遗传学研究通常依赖于从单个个体或一小群个体中初步确定遗传标记。这种初步筛选一直是开展非模式生物群体研究的重大障碍(艾特肯等人,《分子生态学》13:1423 - 1431,2004;莫林等人,《生态与进化趋势》19:208 - 216,2004)。随着越来越多非模式物种的基因组数据可用,可直接从已发表的基因组重叠群和短读存档数据中进行全基因组的单核苷酸多态性(SNP)确定。或者,通过对单个样本或混合样本进行鸟枪法二代测序(NGS)文库测序,或从简化代表性文库(例如捕获富集;见参考文献“汉考克 - 汉泽等人,《分子生态学资源》13:254 - 268,2013”)获得低至中等的基因组覆盖度,能够以有限的投入产生足够的新数据用于SNP发现。我们描述了将短读数据组装到参考物种或相关物种基因组重叠群序列的方案,随后进行SNP发现和筛选,以获得一组最优的SNP,用于使用各种下游高通量基因分型方法进行群体基因分型。

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