Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
BMC genomics - 24 May 2017
Zahir Farah R, Mwenifumbo Jill C, Chun Hye-Jung E, Lim Emilia L, Van Karnebeek Clara D M, Couse Madeline, Mungall Karen L, Lee Leora, Makela Nancy, Armstrong Linlea, Boerkoel Cornelius F, Langlois Sylvie L, McGillivray Barbara M, Jones Steven J M, Friedman Jan M, Marra Marco A
Abstract excerpt
BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an...
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