基因组信息的维度及其对全基因组关联的影响以及基因组预测的变异选择:一项模拟研究
Sungbong Jang1, Shogo Tsuruta2, Natalia Galoro Leite2
1Department of Animal and Dairy Science, University of Georgia, Athens, GA, 30602, USA. jsbng8615@gmail.com.
Genetics, selection, evolution : GSE
|July 17, 2023
概括
通过全基因组关联 (GWA) 研究来识别致病变体受有效人口规模和基因组数据维度的影响. 用基因组信息维度来确定GWA和变异选择的最佳样本大小,尽管将已识别的变异添加到预测模型中提供了有限的好处.
科学领域:
- 基因组学就是基因组学.
- 量化遗传学 量化遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 全基因组关联 (GWA) 研究旨在识别真正的积极变异,这一过程受样本大小和基因组数据维度的影响.
- 基因组关系矩阵 (G) 固有值可以为GWA和变异选择提供最佳样本大小.
研究的目的:
- 调查发现对确定定量特征核酸 (QTN) 的影响.
- 为了评估为基因组预测准确性的标准单核酸多态化 (SNP) 芯片添加选定变体的效果.
主要方法:
- 模拟的序列数据具有不同数量的SNP和QTN,以及有效种群大小 (Ne).
- 使用基因型动物进行的GWA与自身值 (EIG) 相对应,解释了G.的50-99%的变异.
- 通过将显著/大效应SNP添加到50k SNP芯片以进行单步基因组最佳线性无偏预测 (ssGBLUP) 来评估预测准确性.
主要成果:
- 识别大效应的QTN需要大Ne至少EIG98;较小的Ne种群需要更多.
- 较高的特征遗传性 (可靠性) 改善了信息QTN的识别.
- 预测的准确性是最大化的,当显著或大效应的SNP (2x QTN数) 被添加到50k面板时.
结论:
- 因果变异的识别依赖于有效的种群规模和基因组数据的维度.
- 基因组维度有助于确定最佳GWA样本大小和在资源限制下进行变异选择.
- 将精确识别的变体纳入预测模型提供了边际收益.
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