Article
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Genome biology - 6 Mar 2017
Collins Ryan L, Brand Harrison, Redin Claire E, Hanscom Carrie, Antolik Caroline, Stone Matthew R, Glessner Joseph T, Mason Tamara, Pregno Giulia, Dorrani Naghmeh, Mandrile Giorgia, Giachino Daniela, Perrin Danielle, Walsh Cole, Cipicchio Michelle, Costello Maura, Stortchevoi Alexei, An Joon-Yong, Currall Benjamin B, Seabra Catarina M, Ragavendran Ashok, Margolin Lauren, Martinez-Agosto Julian A, Lucente Diane, Levy Brynn, Sanders Stephan J, Wapner Ronald J, Quintero-Rivera Fabiola, Kloosterman Wigard, Talkowski Michael E
Abstract excerpt
BACKGROUND: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. RESULTS: We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X...
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