Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders-Reference-Cited by-同舟云学术

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Published:2012-12-21 Issue:6114 Volume:338 Page:1619-1622
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

O’Roak Brian J.¹,Vives Laura¹,Fu Wenqing¹,Egertson Jarrett D.¹,Stanaway Ian B.¹,Phelps Ian G.²³,Carvill Gemma²³,Kumar Akash¹,Lee Choli¹,Ankenman Katy⁴,Munson Jeff⁴,Hiatt Joseph B.¹,Turner Emily H.¹,Levy Roie¹,O’Day Diana R.²,Krumm Niklas¹,Coe Bradley P.¹,Martin Beth K.¹,Borenstein Elhanan¹⁵⁶,Nickerson Deborah A.¹,Mefford Heather C.²³,Doherty Dan²³,Akey Joshua M.¹,Bernier Raphael⁴,Eichler Evan E.¹⁷,Shendure Jay¹

Affiliation:

1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

2. Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.

3. Seattle Children’s Hospital, Seattle, WA 98105, USA.

4. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.

5. Department of Computer Science and Engineering, University of Washington, Seattle, WA 98195, USA.

6. Santa Fe Institute, Santa Fe, NM 87501, USA.

7. Howard Hughes Medical Institute, Seattle, WA 98195, USA.

Abstract

Autism Genes, Again and Again Despite recent advances in sequencing technologies and their lowered costs—effective, highly sensitive, and specific sequencing of multiple genes of interest from large cohorts remains expensive. O'Roak et al. (p. 1619 ; published online 15 November) modified molecular inversion probe methods for target-specific capture and sequencing to resequence candidate genes in thousands of patients. The technique was applied to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder. The analysis revealed several de novo mutations in genes that together contribute to 1% of sporadic autism spectrum disorders, supporting the notion that multiple genes underlie autism-spectrum disorders.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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