Ontology highlight
ABSTRACT:
SUBMITTER: Zahir FR
PROVIDER: S-EPMC5442678 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Zahir Farah R FR Mwenifumbo Jill C JC Chun Hye-Jung E HE Lim Emilia L EL Van Karnebeek Clara D M CDM Couse Madeline M Mungall Karen L KL Lee Leora L Makela Nancy N Armstrong Linlea L Boerkoel Cornelius F CF Langlois Sylvie L SL McGillivray Barbara M BM Jones Steven J M SJM Friedman Jan M JM Marra Marco A MA
BMC genomics 20170524 1
<h4>Background</h4>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.<h4>Methods</h4>We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches.<h4>R ...[more]