{"title":"Pedigree Selection and Information Content.","authors":"Badri N Vardarajan, Gary W Beecham, Jonathan L Haines","doi":"10.1002/cphg.56","DOIUrl":null,"url":null,"abstract":"<p><p>In this article, we discuss strategies for selection of families and family members for genetic studies. We will evaluate strategies to sample large families with multiply affected members, sibships, and nuclear families. In addition, we have added a section to discuss sub-sampling within pedigrees for large sequencing studies, particularly when genome-wide SNP chips are available on all members of a pedigree. The type of family sampled for a study will determine the statistical analyses and power of discovery of genetic findings. We will evaluate study designs that maximize power and allow for linkage and association analyses to identify genetic loci predisposing to phenotype. © 2018 by John Wiley & Sons, Inc.</p>","PeriodicalId":40007,"journal":{"name":"Current Protocols in Human Genetics","volume":"97 1","pages":"e56"},"PeriodicalIF":0.0000,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/cphg.56","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Protocols in Human Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/cphg.56","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
In this article, we discuss strategies for selection of families and family members for genetic studies. We will evaluate strategies to sample large families with multiply affected members, sibships, and nuclear families. In addition, we have added a section to discuss sub-sampling within pedigrees for large sequencing studies, particularly when genome-wide SNP chips are available on all members of a pedigree. The type of family sampled for a study will determine the statistical analyses and power of discovery of genetic findings. We will evaluate study designs that maximize power and allow for linkage and association analyses to identify genetic loci predisposing to phenotype. © 2018 by John Wiley & Sons, Inc.
系谱选择与信息内容。
在这篇文章中,我们讨论了选择家庭和家庭成员进行遗传研究的策略。我们将评估各种策略,以抽样有多个受影响成员、兄弟姐妹和核心家庭的大家庭。此外,我们还增加了一个章节来讨论大型测序研究系谱中的子采样,特别是当全基因组SNP芯片可用于系谱的所有成员时。一项研究取样的家庭类型将决定统计分析和发现遗传发现的能力。我们将评估最大限度的研究设计,并允许连锁和关联分析,以确定易致表型的遗传位点。©2018 by John Wiley & Sons, Inc。
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