Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association.
Identifieur interne : 000A93 ( Main/Exploration ); précédent : 000A92; suivant : 000A94Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association.
Auteurs : Yufeng Shen [États-Unis] ; Ruijie Song ; Itsik Pe'ErSource :
- Bioinformatics (Oxford, England) ; 2011.
English descriptors
- KwdEn :
- MESH :
Abstract
Whole-genome sequencing (WGS) allows direct interrogation of previously undetected uncommon or rare variants, which potentially contribute to the missing heritability of human disease. However, cost of sequencing large numbers of samples limits its application in case-control association studies. Here, we describe theoretical and empirical design considerations for such sequencing studies, aimed at maximizing the power of detecting association under the constraint of study-wide cost.
DOI: 10.1093/bioinformatics/btr305
PubMed: 21636589
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">Whole-genome sequencing (WGS) allows direct interrogation of previously undetected uncommon or rare variants, which potentially contribute to the missing heritability of human disease. However, cost of sequencing large numbers of samples limits its application in case-control association studies. Here, we describe theoretical and empirical design considerations for such sequencing studies, aimed at maximizing the power of detecting association under the constraint of study-wide cost.</div>
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<country name="États-Unis"><region name="État de New York"><name sortKey="Shen, Yufeng" sort="Shen, Yufeng" uniqKey="Shen Y" first="Yufeng" last="Shen">Yufeng Shen</name>
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