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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.
Original language | English |
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Journal | Genetic Epidemiology |
Volume | 38 |
Issue number | 2 |
Pages (from-to) | 97-103 |
Number of pages | 7 |
ISSN | 0741-0395 |
DOIs | |
Publication status | Published - 01.02.2014 |
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Dive into the research topics of 'How to Include Chromosome X in Your Genome-Wide Association Study'. Together they form a unique fingerprint.Projects
- 1 Finished
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Statistische Analyse des X-Chromosoms in genetischen Assoziationsstudien
01.01.10 → 31.12.16
Project: DFG Funding