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

• Published in: PLoS genetics Vol. 18; no. 5; p. e1010231
• Main Authors: Wang, Zhong, Sun, Lei, Paterson, Andrew D.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 31.05.2022; Public Library of Science (PLoS)
• Subjects: Alleles; Allelomorphism; Biology and Life Sciences; Boundaries; Estimates; Female; Females; Gender differences; Gene Frequency; Genetic variation; Genome; Genomes; Genotype & phenotype; Humans; Male; Males; Nucleotide sequence; Physical Sciences; Physiological aspects; Polymorphism, Single Nucleotide - genetics; Population; Research and Analysis Methods; Sex Characteristics; Sex differences; Single-nucleotide polymorphism; X Chromosome; X chromosomes; Y chromosomes; Singapore

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 G...