Current approaches to detect and characterize mosaic chromosomal aneuploidy are limited by sensitivity, efficiency, cost, or the need to culture cells. We describe the mosaic aneuploidy detection by massively parallel sequencing (MAD-seq) capture assay and the MADSEQ analytical approach that allow low (
Kong, Y., Berko, E., Marcketta, A., Maqbool, S., Simoes-Pires, C., Kronn, D., & Greally, J. (2018). Detecting, Quantifying, and Discriminating the Mechanism of Mosaic Chromosomal Aneuploidies Using MAD-seq. Genome Research, 28 (7), 1039-1052. https://doi.org/10.1101/gr.226282.117
Originally published in Genome Research, 28(12), 1039-1052. The original material can be found here.
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