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Keywords pseudoautosomal region 1 sex chromosomes non-allelic homologous recombination Y haplogroup UK Biobank phenome-wide association study PheWAS Introduction The human X and Y chromosomes undergo obligate crossing over during male meiosis within a specialized domain of strict homology, the ∼2.7-Mb pseudoautosomal region 1 (PAR1; Figure 1A), which lies at the tips of the short arms.1,2 The key role of this region in sex-chromosomal recombination3 and the correct segregation of X and Y into...
Abstract DNA methylation plays a critical role in the dynamics of gene expression regulation and the development of various disorders. Whole-genome bisulfite sequencing can provide single base resolution of CpG methylation levels and is the "gold standard" for DNA methylation quantification, but it also has a high cost. In contrast, targeted sequencing is optimal when focusing on specific candidate regions, while providing sufficient sequencing depth.
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