MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data.

ABSTRACT:

Background

Accurate protocols and methods to robustly detect the mosaic loss of chromosome Y (mLOY) are needed given its reported role in cancer, several age-related disorders and overall male mortality. Intensity SNP-array data have been used to infer mLOY status and to determine its prominent role in male disease. However, discrepancies of reported findings can be due to the uncertainty and variability of the methods used for mLOY detection and to the differences in the tissue-matrix used.

Results

We created a publicly available software tool called MADloy (Mosaic Alteration Detection for LOY) that incorporates existing methods and includes a new robust approach, allowing efficient calling in large studies and comparisons between methods. MADloy optimizes mLOY calling by c

SUBMITTER: Gonzalez JR 

PROVIDER: S-EPMC7682048 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature