Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD

Zhong Wang, Lei Sun and Andrew D Paterson

PLOS Genetics, 2022, vol. 18, issue 5, 1-35

Abstract: An unexpectedly high proportion of SNPs on the X chromosome in the 1000 Genomes Project phase 3 data were identified with significant sex differences in minor allele frequencies (sdMAF). sdMAF persisted for many of these SNPs in the recently released high coverage whole genome sequence of the 1000 Genomes Project that was aligned to GRCh38, and it was consistent between the five super-populations. Among the 245,825 common (MAF>5%) biallelic X-chromosomal SNPs in the phase 3 data presumed to be of high quality, 2,039 have genome-wide significant sdMAF (p-value

Date: 2022
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1010231

DOI: 10.1371/journal.pgen.1010231

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