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

Abstract Background 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) deviati...

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Bibliographic Details

Published in:	BMC Bioinformatics
Main Authors:	Weiyin Zhou, Wen-Yi Huang, Neal D. Freedman, Mitchell Machiela
Format:	Article
Language:	English
Published:	BMC 2025-02-01
Subjects:	Mosaic loss of Y chromosome Log2 R ratio Detection Cell fraction Y chromosome
Online Access:	https://doi.org/10.1186/s12859-025-06076-6