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PICARA 是一个分析流水线,它提供了关于植物全基因组关联 QTL 中先验候选基因的概率推理。

PICARA, an analytical pipeline providing probabilistic inference about a priori candidates genes underlying genome-wide association QTL in plants.

机构信息

Department of Plant Breeding and Genetics, Cornell University, Ithaca, New York, United States of America.

出版信息

PLoS One. 2012;7(11):e46596. doi: 10.1371/journal.pone.0046596. Epub 2012 Nov 7.

Abstract

PICARA is an analytical pipeline designed to systematically summarize observed SNP/trait associations identified by genome wide association studies (GWAS) and to identify candidate genes involved in the regulation of complex trait variation. The pipeline provides probabilistic inference about a priori candidate genes using integrated information derived from genome-wide association signals, gene homology, and curated gene sets embedded in pathway descriptions. In this paper, we demonstrate the performance of PICARA using data for flowering time variation in maize - a key trait for geographical and seasonal adaption of plants. Among 406 curated flowering time-related genes from Arabidopsis, we identify 61 orthologs in maize that are significantly enriched for GWAS SNP signals, including key regulators such as FT (Flowering Locus T) and GI (GIGANTEA), and genes centered in the Arabidopsis circadian pathway, including TOC1 (Timing of CAB Expression 1) and LHY (Late Elongated Hypocotyl). In addition, we discover a regulatory feature that is characteristic of these a priori flowering time candidates in maize. This new probabilistic analytical pipeline helps researchers infer the functional significance of candidate genes associated with complex traits and helps guide future experiments by providing statistical support for gene candidates based on the integration of heterogeneous biological information.

摘要

PICARA 是一个分析流水线,旨在系统地总结通过全基因组关联研究 (GWAS) 确定的观察到的 SNP/性状关联,并确定参与复杂性状变异调节的候选基因。该流水线使用源自全基因组关联信号、基因同源性以及包含在途径描述中的精心策划的基因集的综合信息,对先验候选基因进行概率推断。在本文中,我们使用玉米开花时间变化的数据来展示 PICARA 的性能 - 这是植物地理和季节性适应的关键性状。在来自拟南芥的 406 个精心策划的开花时间相关基因中,我们在玉米中鉴定出 61 个直系同源物,这些基因对 GWAS SNP 信号显著富集,包括关键调节剂,如 FT(开花位点 T)和 GI(GIGANTEA),以及拟南芥生物钟途径中的基因,包括 TOC1(生物钟表达 1)和 LHY(晚期伸长的下胚轴)。此外,我们发现了一个在玉米中这些先验开花时间候选物特有的调节特征。这个新的概率分析流水线帮助研究人员推断与复杂性状相关的候选基因的功能意义,并通过基于异构生物信息的整合为候选基因提供统计支持,从而指导未来的实验。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e435/3492367/27a6be9338c4/pone.0046596.g001.jpg

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