How to Include Chromosome X in Your Genome-Wide Association Study

Inke R. König*, Christina Loley, Jeanette Erdmann, Andreas Ziegler

*Korrespondierende/r Autor/-in für diese Arbeit
14 Zitate (Scopus)

Abstract

In current genome-wide association studies (GWAS), the analysis is usually focused on autosomal variants only, and the sex chromosomes are often neglected. Recently, a number of technical hurdles have been described that add to a reluctance of including chromosome X in a GWAS, including complications in genotype calling, imputation, and selection of test statistics. To overcome this, we provide a "how to" guide for analyzing X chromosomal data within a standard GWAS. Following a general pipeline for GWAS, we highlight the steps in which the X chromosome requires specific attention, and we give tentative advice for each of these. Through this, we show that by selection of sensible algorithms and parameter settings, the inclusion of chromosome X in GWAS is manageable. Closing this gap is expected to further elucidate the genetic background of complex diseases, especially of those with sex-specific features.
OriginalspracheEnglisch
ZeitschriftGenetic Epidemiology
Jahrgang38
Ausgabenummer2
Seiten (von - bis)97-103
Seitenumfang7
ISSN0741-0395
DOIs
PublikationsstatusVeröffentlicht - 01.02.2014

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