Abstract
Researchers continue to use genome-wide association studies (GWAS) to find the genetic markers associated with disease. Recent studies have added to the typical two-stage analysis a third stage that uses targeted resequencing on a randomly selected subset of the cases to detect the causal single-nucleotide polymorphism (SNP). We propose a design for targeted resequencing that increases the power to detect the causal variant. The design features an ascertainment scheme wherein only those cases with the presence of a risk allele are selected for targeted resequencing. We simulated a disease with a single causal SNP to evaluate our method versus a targeted resequencing design using randomly selected individuals. The simulation studies showed that ascertaining individuals for the targeted resequencing can substantially increase the power to detect a causal SNP, without increasing the false-positive rate.
Original language | English (US) |
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Pages (from-to) | 285-294 |
Number of pages | 10 |
Journal | Statistics and its Interface |
Volume | 4 |
Issue number | 3 |
DOIs | |
State | Published - 2011 |
Keywords
- Causal polymorphism
- Genome-wide association study
- Phrases: ascertainment
- Targeted resequencing.
ASJC Scopus subject areas
- Statistics and Probability
- Applied Mathematics