Article
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
American journal of human genetics - 7 Feb 2013
Girirajan Santhosh, Dennis Megan Y, Baker Carl, Malig Maika, Coe Bradley P, Campbell Catarina D, Mark Kenneth, Vu Tiffany H, Alkan Can, Cheng Ze, Biesecker Leslie G, Bernier Raphael, Eichler Evan E
Abstract excerpt
Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability. These variants are large and affect many genes but lack clear specificity toward autism as opposed to developmental-delay phenotypes. We exploited the repeat architecture of the genome to target segmental duplication-mediated rearrangement hotspots (n = 120, median size 1.78 Mbp, range 240 kbp to 13 Mbp) and smaller...
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