MADSEQ

MADSEQ detects and quantifies mosaic chromosomal aneuploidies from sequencing data using a sequencing-based assay and hierarchical Bayesian models to identify and characterize low-level mosaicism.

Key Features:

• Sequencing-based assay: Employs a sequencing-based assay to enhance detection sensitivity for low-level mosaic chromosomal aneuploidy.
• Hierarchical Bayesian models: Uses hierarchical Bayesian modeling as the analytical framework for robust detection, characterization, and quantification of mosaicism.
• Origin inference: Distinguishes between meiotic and mitotic origins of detected aneuploidies.
• Quantification of mosaic fraction: Estimates the proportion of aneuploid cells within a sample to provide quantitative measures of mosaicism.
• Multi-ethnic assay design: Incorporates a multi-ethnic assay design to support analysis across diverse racial and ethnic populations.

Scientific Applications:

• Population-scale exome analysis: Applied to exome sequencing data from the 1000 Genomes Project to reveal previously unrecognized instances of aneuploidy.
• Cell line repository screening: Applied to public cell line repositories to detect mosaic aneuploidies that may influence genetic and phenotypic interpretation.

Methodology:

Integrates a sequencing-based assay with hierarchical Bayesian models to detect, characterize, and quantify mosaic chromosomal aneuploidies.