139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data

️ Episode 139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data In this episode of PaperCast Base by Base, we explore the development of MosCoverY, a computational method designed to detect and quantify mosaic loss of the Y chromosome (mLOY) from exome and whole-genome sequencing data. This condition, the most common somatic mutation in men, is strongly linked with aging and several diseases. Study Highlights:The researchers introduced MosCoverY, a tool that focuses on single-copy genes of the Y chromosome and normalizes their coverage against carefully matched autosomal exons. They applied it to more than 212,000 male participants in the UK Biobank and demonstrated its accuracy by replicating associations of mLOY with age, smoking, mortality, and known germline loci. The method was also validated in tumor samples from The Cancer Genome Atlas, revealing variable prevalence of mLOY across cancer types. MosCoverY proved robust even at lower sequencing depths and can be applied to both large cohorts and single-sample analyses, making it versatile for population genetics and clinical research. Conclusion:MosCoverY provides a scalable and reliable approach to study mLOY in genomic datasets, opening opportunities for insights into age-related disease risk and male-specific health outcomes. Reference:Timonina V, Marchal A, Abel L, Cobat A, Fellay J. MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data. The American Journal of Human Genetics. 2025 Oct 2;112(1):1-11. doi:10.1016/j.ajhg.2025.08.016 License:This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support:If you'd like to support Base by Base, you can make a one-time or monthly donation here: https://basebybase.castos.com/ On PaperCast Base by Base you’ll discover the latest in genomics, functional genomics, structural genomics, and proteomics. Keywords: mLOY, exome sequencing, whole-genome sequencing, aging, MosCoverY

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