Frequency and complexity of de novo structural mutation in autism
William M Brandler, Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Timothy R Chapman, Daniel J Barrera, Guan Ning Lin, Dheeraj Malhotra, Amanda C Watts, Lawrence C Wong, Jasper A Estabillo, Therese E Gadomski, Oanh Hong, Karin V Fuentes Fajardo, , Jonathan Sebat
The paper identifies 1.2 million structural variants in 235 individuals, showing high de novo mutation diversity and complex mutation clusters, but finds no increased genome rearrangement rate for ASD.
bioRxiv · Oct 30, 2015Genomics