Article
Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome.
Human molecular genetics - 28 Feb 2024
Chen Desmond Zeya, Roshandel Delnaz, Wang Zhong, Sun Lei, Paterson Andrew D
Abstract excerpt
The UK Biobank is the most used dataset for genome-wide association studies (GWAS). GWAS of sex, essentially sex differences in minor allele frequencies (sdMAF), has identified autosomal SNPs with significant sdMAF, including in the UK Biobank, but the X chromosome was excluded. Our recent report identified multiple regions on the X chromosome with significant sdMAF, using short-read sequencing of other datasets....
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