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Chunk #13 — Background — Sex is not studied in human genetics

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From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex.
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The first literature search aimed to retrieve all papers that test for genetic associations, so the search terms were “genome-wide association study” OR (“genome-wide” AND “association”) OR “gwas” OR (“genome” AND “association”) OR (“exome” AND “association”) OR (“transcriptome” AND “association”) AND “humans” and returned a total of 32,779 results from PubMed, and 3039 from Web of Science (with ≥100 citations). The second search aimed to retrieve all genetic association publications that include mention of sex differences and/or analyses of sex, and therefore “sex difference” OR “by sex” OR “sex-specific” were added. This search returned a total of 168 results from PubMed (or 0.5% of all PubMed results) and 33 from Web of Science (or 1% of results from the most cited articles in the field). In addition to limiting our above search to “sex”-related terms, we repeated the search using the terms “X-chromosome” and “Y-chromosome.” Inclusion of the term “X-chromosome” yielded 195 articles from PubMed (0.6%) and 18 from Web of Science with ≥100 citations (0.6%). Inclusion of the term “Y-chromosome” yielded 63 articles from PubMed (0.19%) and 4 from Web of Science with ≥100 citations (0.13%).