From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex.

paper Cited Public

Authors: Powers, Matthew S; Smith, Phillip H; McKee, Sherry A; Ehringer, Marissa A
Year: 2017
Journal: Biology of sex differences
PMID: 28473910
DOI: 10.1186/s13293-017-0136-8
PMCID: PMC5415751

#	Section	Preview
0	Background	In order to increase scientific rigor and reproducibility, Drs. Collins (Director, NIH) and Clayton…
1	Background	Over the course of this commentary, we hope to accomplish four goals: (1) identify why sex…
2	Background — Sex differences in genetics	Many fields in biology under-report sex differences and experiments that include this important…
3	Background — Sex differences in genetics	The most obvious difference between the sexes’ genomes is the presence of the Y-chromosome.…
4	Background — Sex differences in genetics	Along with the presence/absence of the Y-chromosome, males and females also differ in the number of…
5	Background — Sex differences in genetics	the X-chromosome are more likely to have sex-specific expression compared to genes on the autosomes…
6	Background — Sex differences in genetics	Chromosomal differences aside, males and females differ remarkably with regards to the structure of…
7	Background — Sex differences in genetics	Sex differences in gene expression patterns are important to highlight, as these differences can be…
8	Background — Sex differences in genetics	stronger for one sex compared to the other, a composite association may mask important…
9	Background — Sex differences in genetics	The importance of considering sex in human genetic studies is not just limited to the realm of…
10	Background — Sex differences in genetics	Another important reason for assessing and reporting analyses of sex relates to the impact that…
11	Background — Sex differences in genetics	these sex-specific associations have implications for the efficacy of treatment options, but given…
12	Background — Sex is not studied in human genetics	To gain insight into the proportion of human genetics studies that include sex differences in their…
13	Background — Sex is not studied in human genetics	The first literature search aimed to retrieve all papers that test for genetic associations, so the…
14	Background — Sex is not studied in human genetics	These search results are surprising; 1% of genetic association study publications in either PubMed…
15	Background — Why analyses of sex are often neglected in human genetic studies	Both clinical and preclinical researchers are routinely required to consider sex differences, but…
16	Background — Why analyses of sex are often neglected in human genetic studies	Given the obvious importance of assessing sex in the context of experimental results, why is it that…
17	Background — Why analyses of sex are often neglected in human genetic studies	The desire to maximize power also underlies the two reasons routinely cited to justify controlling…
18	Background — Why analyses of sex are often neglected in human genetic studies	The second reason used to justify controlling for sex is that genotyping/sequencing costs are…
19	Background — Sex needs to be evaluated separately: best approach for evaluation of sex in genetic studies is to stratify	With the recent directive from NIH to consider sex as a variable of interest in preclinical studies,…

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