Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Copy-number variants (CNVs) have been the predominant focus of genetic studies of structural variation, and chromosomal microarray (CMA) for genome-wide CNV detection is the recommended first-tier genetic diagnostic screen in neurodevelopmental disorders. We compared CNVs observed by CMA to the structural variation detected by whole-genome large-insert sequencing in 259 individuals diagnosed with autism spectrum disorder (ASD) from the Simons Simplex Collection. These analyses revealed a diverse landscape of complex duplications in the human genome.

Source: The American Journal of Human Genetics - June 18, 2015 Category: Genetics & Stem Cells Authors: Harrison Brand, Ryan L. Collins, Carrie Hanscom, Jill A. Rosenfeld, Vamsee Pillalamarri, Matthew R. Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert, Elyse Mitchell, Jennelle C. Hodge, James F. Gusella, Stephan J. Sanders, Michael Tags: Report Source Type: research