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) 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 log₂ R ratio across the male-specific region of Y chromosome (mLRR_Y) are needed for detecting mLOY on these platforms.

Results

We derived a formula from mLRR_Y to estimate the cellular fraction (CF) of cells with Y loss and validated the approach, finding high a

SUBMITTER: Zhou W 

PROVIDER: S-EPMC11837314 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature