Article
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.
BMC bioinformatics - 17 May 2011
González Juan R, Rodríguez-Santiago Benjamín, Cáceres Alejandro, Pique-Regi Roger, Rothman Nathaniel, Chanock Stephen J, Armengol Lluís, Pérez-Jurado Luis A
Abstract excerpt
BACKGROUND: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it has been only studied systematically in one large-scale study and by using non optimal ad-hoc SNP array data analysis tools, uncovering rather large alterations (> 1 Mb) and...
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