Summary
This systematic review examines the continued exclusion or inconsistent treatment of sex chromosomes in genome-wide association studies, a decade after earlier critical commentary highlighted this methodological gap. The authors assess how X and Y chromosomes have (or have not) been integrated into GWAS methodologies and reporting across major genetic epidemiology studies. The work documents persistent challenges in incorporating sex chromosome data into population-level genetic association research, with implications for the completeness and generalisability of GWAS findings.
Regional applicability
This is a methodological review of international GWAS practices rather than a geography-specific study. The findings are directly applicable to United Kingdom genetic research infrastructure and GWAS conduct standards, particularly in NHS-linked biobank studies and UK Biobank analyses, which set methodological precedent for sex chromosome treatment in association studies.
Key measures
Prevalence and nature of sex chromosome inclusion/exclusion in GWAS; methodological approaches to sex chromosome analysis; reporting transparency in peer-reviewed publications
Outcomes reported
The study assessed the historical exclusion and current treatment of X and Y chromosomes in genome-wide association studies (GWAS) across large genetic epidemiology studies. It evaluated methodological and reporting practices for sex chromosome integration in GWAS publications.
Topic tags
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