학술논문
Improved imputation of common and uncommon SNPs with a new reference set.
Document Type
Article
Author
Wang, Zhaoming; Jacobs, Kevin B; Yeager, Meredith; Hutchinson, Amy; Sampson, Joshua; Chatterjee, Nilanjan; Albanes, Demetrius; Berndt, Sonja I; Chung, Charles C; Diver, W Ryan; Gapstur, Susan M; Teras, Lauren R; Haiman, Christopher A; Henderson, Brian E; Stram, Daniel; Deng, Xiang; Hsing, Ann W; Virtamo, Jarmo; Eberle, Michael A; Stone, Jennifer L
Source
Subject
*SINGLE nucleotide polymorphisms
*MULTIPLE imputation (Statistics)
*HUMAN genetic variation
*GENEALOGY
*GENETIC research
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Language
ISSN
1061-4036
Abstract
The article focuses on a study which investigates the statistical imputation of uncommon and common single nucleotide polymorphisms (SNPs) with a novel reference set. The study has used patterns of relation disequilibrium determined in a reference set of haplotypes to know identify genetic variants in silico. Results show that for common variants, a reference set of enough size can predict common SNPs if there is a variance in population ancestry.