Estimation of mosaic loss of Y chromosome cell fraction with genotyping arrays lacking coverage in the pseudoautosomal region.

Weiyin Zhou, Wen-Yi Huang, Neal D Freedman, Mitchell Machiela

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. [email protected]. · pubmed

Paper

Abstract

Mosaic loss of the Y chromosome (mLOY) in circulating leukocytes is the most frequently detected age-related chromosomal mosaic event in men. Current mLOY detection approaches use genotyping arrays and employ a phase-based approach that identifies B allele frequency (BAF) deviations in the pseudo-autosomal region (PAR) shared between the X and Y chromosome. As some widely used genotyping arrays lack sufficient probe coverage of the PAR, methods for accurately measuring mLOY utilizing the median log

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Research summary

The paper claims to improve the detection of mosaic loss of the Y chromosome (mLOY) in leukocytes using genotyping arrays. This research is relevant as it addresses a chromosomal event associated with aging, potentially contributing to our understanding of age-related biological changes in men.

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