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

 0 Người đánh giá. Xếp hạng trung bình 0

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

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : BMC bioinformatics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 515023

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 log 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 alignment with the CF estimation from female data and lab-generated qPCR data (R CONCLUSION: Although mLRR_Y is a noisier metric for mosaic chromosomal alteration detection relative to BAF, we demonstrate mLRR_Y across non-PAR variants can accurately estimate mLOY CF, especially for high CF mLOY.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH