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The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic
Joseph D Buxbaum1, Nadia Bolshakova2, Jessica M Brownfeld1
1The Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York 10029, USA.
Molecular Autism
|November 14, 2014
Summary
The Autism Simplex Collection (TASC) created a valuable dataset of over 1,700 autism spectrum disorder (ASD) trios. This public-private partnership enhanced genetic and phenotypic research for understanding ASD causes.
Area of Science:
- Genetics and Genomics
- Neuroscience
- Public Health
Background:
- Urgent need for expanded autism spectrum disorder (ASD) sample collections to understand its causes.
- Limited availability of comprehensive genetic and phenotypic data for ASD research.
Purpose of the Study:
- To establish The Autism Simplex Collection (TASC), a large-scale, multi-site effort to collect genetic and phenotypic data from ASD individuals.
- To facilitate genetic and phenotypic research aimed at uncovering the causes of ASD.
Main Methods:
- A 2-year public-private partnership involving 13 experienced ASD assessment and diagnosis sites.
- Collection of over 1,700 autism trios with DNA, extensive phenotypic measures, and genetic data (SNP genotyping, CNV, WES).
- Centralized data coordination and data release through NIH databases (dbGaP, NDAR).
Main Results:
- Over 1,700 autism trios collected with comprehensive phenotypic data (ADI-R, ADOS-G, IQ, VABS, SRS, etc.).
- Genomic data including SNP genotyping and copy number variation (CNV) available for nearly 1,000 trios.
- Whole exome sequencing (WES) data available for over 500 probands and ongoing sequencing by the Autism Sequencing Consortium.
Conclusions:
- TASC provides a significant and valuable sample set for ASD research, leveraging expertise from multiple sites.
- This collaborative model of leveraging expert sites is crucial for advancing ASD sample enhancement and research.
- The TASC data is publicly accessible, promoting further investigation into the genetic and phenotypic underpinnings of ASD.