Quality control and analytic best practices for testing genetic models of sex differences in large populations

Ekaterina A. Khramtsova*, Melissa A. Wilson, Joanna Martin, Stacey J. Winham, Karen Y. He, Lea K. Davis, Barbara E. Stranger*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Phenotypic sex-based differences exist for many complex traits. In other cases, phenotypes may be similar, but underlying biology may vary. Thus, sex-aware genetic analyses are becoming increasingly important for understanding the mechanisms driving these differences. To this end, we provide a guide outlining the current best practices for testing various models of sex-dependent genetic effects in complex traits and disease conditions, noting that this is an evolving field. Insights from sex-aware analyses will not only teach us about the biology of complex traits but also aid in achieving the goals of precision medicine and health equity for all.

Original languageEnglish (US)
Pages (from-to)2044-2061
Number of pages18
JournalCell
Volume186
Issue number10
DOIs
StatePublished - May 11 2023

Keywords

  • analytical methods
  • complex traits
  • genetic analyses
  • quality control
  • sex as a biological variable
  • sex chromosomes
  • sex differences

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

Fingerprint

Dive into the research topics of 'Quality control and analytic best practices for testing genetic models of sex differences in large populations'. Together they form a unique fingerprint.

Cite this