Proportion classified as affected by mosaic loss of Y chromosome

phase-based quantification increases proportion classified as affected by mosaic loss of Y chromosome in humans (from 5.3% to 19.2%).

“These differences shifted the inferred onset of biological risk and expanded the proportion of individuals classified as affected from 5.3% to 19.2%.”

Humansphase-based versus intensity-based quantificationmalesn = 223,251

Measurement strategy alters inferred age-dependent accumulation and mortality risk of mosaic Y loss

medRxiv·10 Mar 2026Preprint