Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Abstract 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...

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Bibliographic Details
Main Authors: Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Genomics
Subjects:
Intellectual Disability
Whole genome sequencing
ARID1B
PHF6
SPRY4
CACNB3
Online Access:http://link.springer.com/article/10.1186/s12864-017-3671-0

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http://link.springer.com/article/10.1186/s12864-017-3671-0

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