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全基因组关联研究中候选基因的鉴定和验证。

Identification and Validation of Candidate Genes from Genome-Wide Association Studies.

机构信息

Syngenta SAS France, Saint Sauveur, France.

出版信息

Methods Mol Biol. 2022;2481:249-272. doi: 10.1007/978-1-0716-2237-7_15.

Abstract

Exploiting the statistical associations coming out from a GWAS experiment to identify and validate candidate genes may be potentially difficult and time consuming. To fill the gap between the identification of candidate genes toward their functional validation onto the trait performance, the prioritization of variants underlying the GWAS-associated regions is necessary. In parallel, recent developments in genomics and statistical methods have been achieved notably in human genetic and they are accordingly being adopted in plant breeding toward the study of the genetic architecture of traits to sustain genetic gains. In this chapter, we aim at providing both theoretical and practical aspects underlying three main options including (1) the MetaGWAS analysis, (2) the statistical fine mapping and (3) the integration of functional data toward the identification and validation of candidate genes from a GWAS experiment.

摘要

利用 GWAS 实验得出的统计关联来识别和验证候选基因可能具有一定的难度和耗时。为了填补候选基因从识别到功能验证到性状表现之间的空白,有必要对 GWAS 关联区域下的变异进行优先级排序。与此同时,基因组学和统计方法的最新发展在人类遗传学中取得了显著成就,并且正在被应用于植物育种领域,以研究性状的遗传结构,从而维持遗传增益。在本章中,我们旨在提供三种主要选择的理论和实践方面,包括(1)MetaGWAS 分析,(2)统计精细映射和(3)功能数据的整合,以从 GWAS 实验中识别和验证候选基因。

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