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A ν-support vector regression based approach for predicting imputation quality

Abstract

Background
Decades of genome-wide association studies (GWAS) have accumulated large volumes of genomic data that can potentially be reused to increase statistical power of new studies, but different genotyping platforms with different marker sets have been used as biotechnology has evolved, preventing pooling and comparability of old and new data. For example, to pool together data collected by 550K chips with newer data collected by 900K chips, we will need to impute missing loci. Many imputation algorithms have been developed, but the posteriori probabilities estimated by those algorithms are not a reliable measure the quality of the imputation. Recently, many studies have used an imputation quality score (IQS) to measure the quality of imputation. The IQS requires to know true alleles to estimate. Only when the population and the imputation loci are identical can we reuse …

Date
January 1, 1970
Authors
Yi-Hung Huang, John P Rice, Scott F Saccone, José Luis Ambite, Yigal Arens, Jay A Tischfield, Chun-Nan Hsu
Conference
BMC proceedings
Volume
6
Pages
1-10
Publisher
BioMed Central