Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intell...
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
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Author / Creator
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 and Marra, Marco A
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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.
We conducted WGS on eight children with idiopathic ID and brain structural de...
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Full title
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
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TN_cdi_doaj_primary_oai_doaj_org_article_4e7ead77142848a49d2a6dee91a32ba4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4e7ead77142848a49d2a6dee91a32ba4
Other Identifiers
ISSN
1471-2164
E-ISSN
1471-2164
DOI
10.1186/s12864-017-3671-0
