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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Molecular Autism 1/2014

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

Zeitschrift:
Molecular Autism > Ausgabe 1/2014
Autoren:
Joseph D Buxbaum, Nadia Bolshakova, Jessica M Brownfeld, Richard JL Anney, Patrick Bender, Raphael Bernier, Edwin H Cook, Hilary Coon, Michael Cuccaro, Christine M Freitag, Joachim Hallmayer, Daniel Geschwind, Sabine M Klauck, John I Nurnberger, Guiomar Oliveira, Dalila Pinto, Fritz Poustka, Stephen W Scherer, Andy Shih, James S Sutcliffe, Peter Szatmari, Astrid M Vicente, Veronica Vieland, Louise Gallagher
Wichtige Hinweise

Competing interest

The authors declare that they have no competing interests.

Authors’ contributions

JDB: conception and design; data collection; analysis; manuscript writing; critical revision; final approval of manuscript; overall study coordination; financial support. NB: overall study coordination. JMB: overall study coordination. RJLA: data collection; analysis; manuscript writing; critical revision; final approval of manuscript. PB: Patrick Bender is now deceased and therefore unable to read and approve the final version of the manuscript. RB: data collection. EHC: conception and design; data collection; analysis; manuscript writing; critical revision; final approval of manuscript; overall study coordination. HC: conception and design; data collection; analysis; final approval of manuscript; overall study coordination. MC: conception and design; data collection. CMF: data collection; critical revision; final approval of manuscript; overall study coordination. JH: conception and design. DG: final approval of manuscript; financial support. SMK: data collection; critical revision; final approval of manuscript; overall study coordination. JIN: data collection; critical revision; final approval of manuscript. GO: conception and design; data collection. DP: conception and design; analysis; manuscript writing; final approval of manuscript; overall study coordination; financial support. FP: data collection; critical revision; final approval of manuscript; overall study coordination. SWS: conception and design; data collection; final approval of manuscript; overall study coordination; financial support. AS: conception and design; financial support. JSS: conception and design; data collection; analysis; manuscript writing; final approval of manuscript; overall study coordination; financial support. PS: data collection; final approval of manuscript. AMV: data collection; final approval of manuscript; overall study coordination. VV: conception and design; manuscript writing; final approval of manuscript; overall study coordination. LG: conception and design; data collection; analysis; manuscript writing; critical revision; overall study coordination; financial support. DG: data collection. AK: data collection; final approval of manuscript. LS: data collection; final approval of manuscript. AT: data collection. SB: data collection. GH: data collection. ML-S: data collection. FL: data collection. JMG: data collection. PC: data collection. SJG: data collection; final approval of manuscript. WMcM: overall study coordination. JM: data collection; analysis. JG: conception and design. MP-V: conception and design. ED: data collection. SS: data collection. CJMcD: data collection. DJP: data collection. JA: conception and design; data collection. GSC: data collection. JLH: conception and design; data collection. MP: data collection. ALN: data collection. CC: data collection. PF: conception and design. All authors read and approved the final manuscript.

Abstract

Background

There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD.

Methods

In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center.

Results

Over 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children’s or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the focus is on sequencing complete trios. ASC sequencing for the first 1,000 samples (all from whole-blood DNA) is complete and data will be released in 2014. Data is being made available through NIH databases (database of Genotypes and Phenotypes (dbGaP) and National Database for Autism Research (NDAR)) with DNA released in Dist 11.0. Primary funding for the collection, genotyping, sequencing and distribution of TASC samples was provided by Autism Speaks and the NIH, including the National Institute of Mental Health (NIMH) and the National Human Genetics Research Institute (NHGRI).

Conclusions

TASC represents an important sample set that leverages expert sites. Similar approaches, leveraging expert sites and ongoing studies, represent an important path towards further enhancing available ASD samples.
Literatur
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