Why does the X chromosome lag behind autosomes in GWAS findings?
The X-chromosome is among the largest human chromosomes. It differs from autosomes by
a number of important features including hemizygosity in males, an almost complete …
a number of important features including hemizygosity in males, an almost complete …
Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes
I Agarwal, M Przeworski - Proceedings of the National …, 2019 - National Acad Sciences
The sources of human germline mutations are poorly understood. Part of the difficulty is that
mutations occur very rarely, and so direct pedigree-based approaches remain limited in the …
mutations occur very rarely, and so direct pedigree-based approaches remain limited in the …
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …
association study (GWAS) results included the X chromosome. Multiple recommendations …
eXclusion: toward integrating the X chromosome in genome-wide association analyses
AL Wise, L Gyi, TA Manolio - The American Journal of Human Genetics, 2013 - cell.com
The X chromosome lags behind autosomal chromosomes in genome-wide association
study (GWAS) findings. Indeed, the X chromosome is commonly excluded from GWAS …
study (GWAS) findings. Indeed, the X chromosome is commonly excluded from GWAS …
Characterization of X-linked SNP genotypic variation in globally distributed human populations
Background The transmission pattern of the human X chromosome reduces its population
size relative to the autosomes, subjects it to disproportionate influence by female …
size relative to the autosomes, subjects it to disproportionate influence by female …
Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD
Z Wang, L Sun, AD Paterson - PLoS genetics, 2022 - journals.plos.org
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 …
Project phase 3 data were identified with significant sex differences in minor allele …
Genetic diversity on the human X chromosome does not support a strict pseudoautosomal boundary
Unlike the autosomes, recombination between the X chromosome and the Y chromosome is
often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of …
often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of …
How to include chromosome X in your genome‐wide association study
In current genome‐wide association studies (GWAS), the analysis is usually focused on
autosomal variants only, and the sex chromosomes are often neglected. Recently, a number …
autosomal variants only, and the sex chromosomes are often neglected. Recently, a number …
[HTML][HTML] Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP
microarray intensity data of 38,303 women from cancer genome-wide association studies …
microarray intensity data of 38,303 women from cancer genome-wide association studies …
Eight quick tips for including chromosome X in genome-wide association studies
J Bellavance, L Wang… - PLOS Computational …, 2024 - journals.plos.org
All individuals carry a minimum of 1 copy of chromosome X. Despite being a relatively long
chromosome with more than 150 million base pairs [1], similar in length to chromosome 8 …
chromosome with more than 150 million base pairs [1], similar in length to chromosome 8 …