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

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Cell. 2023 May 11;186(10):2044-2061. doi: 10.1016/j.cell.2023.04.014.

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.

PMID:37172561 | DOI:10.1016/j.cell.2023.04.014

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

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