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

doi:10.1016/j.cell.2023.04.014

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

Quantitative Health Sciences

Research output: Contribution to journal › Review article › peer-review

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 language	English (US)
Pages (from-to)	2044-2061
Number of pages	18
Journal	Cell
Volume	186
Issue number	10
DOIs	https://doi.org/10.1016/j.cell.2023.04.014
State	Published - 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

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10.1016/j.cell.2023.04.014

Cite this

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

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.",

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AU - Khramtsova, Ekaterina A.

AU - Wilson, Melissa A.

AU - Martin, Joanna

AU - Winham, Stacey J.

AU - He, Karen Y.

AU - Davis, Lea K.

AU - Stranger, Barbara E.

PY - 2023/5/11

Y1 - 2023/5/11

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AB - 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.

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KW - complex traits

KW - genetic analyses

KW - quality control

KW - sex as a biological variable

KW - sex chromosomes

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

Abstract

Keywords

ASJC Scopus subject areas

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