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

<h3>Background</h3><p dir="ltr">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...

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Bibliographic Details
Main Author: Farah R. Zahir (18892108) (author)
Other Authors: Jill C. Mwenifumbo (19725358) (author), Hye-Jung E. Chun (19725361) (author), Emilia L. Lim (3348266) (author), Clara D. M. Van Karnebeek (19725364) (author), Madeline Couse (3385817) (author), Karen L. Mungall (9709370) (author), Leora Lee (3214851) (author), Nancy Makela (4046018) (author), Linlea Armstrong (4046036) (author), Cornelius F. Boerkoel (12242496) (author), Sylvie L. Langlois (19725367) (author), Barbara M. McGillivray (19725370) (author), Steven J. M. Jones (9709382) (author), Jan M. Friedman (11252261) (author), Marco A. Marra (7610399) (author)
Published: 2017
Subjects:
Biological sciences
Genetics
Intellectual Disability
Whole genome sequencing
ARID1B
PHF6
SPRY4
CACNB3
SQSTM1
UPF1
1q43 microdeletion
Genome assembly
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