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

Hdl Handle:
http://hdl.handle.net/10147/325911
Title:
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Authors:
Buxbaum, Joseph D; Bolshakova, Nadia; Brownfeld, Jessica M; Anney, Richard JL; Bender, Patrick; Bernier, Raphael; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael; Freitag, Christine M; Hallmayer, Joachim; Geschwind, Daniel; Klauck, Sabine M; Nurnberger, John I; Oliveira, Guiomar; Pinto, Dalila; Poustka, Fritz; Scherer, Stephen W; Shih, Andy; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica; Gallagher, Louise
Citation:
Buxbaum JD et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Mol Aut. 2014 May 20;5(1):34
Issue Date:
20-May-2014
URI:
http://dx.doi.org/10.1186/2040-2392-5-34; http://hdl.handle.net/10147/325911
Abstract:
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.
Item Type:
Article
Language:
en
Keywords:
AUTISM; GENETICS

Full metadata record

DC FieldValue Language
dc.contributor.authorBuxbaum, Joseph Den_GB
dc.contributor.authorBolshakova, Nadiaen_GB
dc.contributor.authorBrownfeld, Jessica Men_GB
dc.contributor.authorAnney, Richard JLen_GB
dc.contributor.authorBender, Patricken_GB
dc.contributor.authorBernier, Raphaelen_GB
dc.contributor.authorCook, Edwin Hen_GB
dc.contributor.authorCoon, Hilaryen_GB
dc.contributor.authorCuccaro, Michaelen_GB
dc.contributor.authorFreitag, Christine Men_GB
dc.contributor.authorHallmayer, Joachimen_GB
dc.contributor.authorGeschwind, Danielen_GB
dc.contributor.authorKlauck, Sabine Men_GB
dc.contributor.authorNurnberger, John Ien_GB
dc.contributor.authorOliveira, Guiomaren_GB
dc.contributor.authorPinto, Dalilaen_GB
dc.contributor.authorPoustka, Fritzen_GB
dc.contributor.authorScherer, Stephen Wen_GB
dc.contributor.authorShih, Andyen_GB
dc.contributor.authorSutcliffe, James Sen_GB
dc.contributor.authorSzatmari, Peteren_GB
dc.contributor.authorVicente, Astrid Men_GB
dc.contributor.authorVieland, Veronicaen_GB
dc.contributor.authorGallagher, Louiseen_GB
dc.date.accessioned2014-09-05T14:49:06Z-
dc.date.available2014-09-05T14:49:06Z-
dc.date.issued2014-05-20-
dc.identifier.citationBuxbaum JD et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Mol Aut. 2014 May 20;5(1):34en_GB
dc.identifier.urihttp://dx.doi.org/10.1186/2040-2392-5-34-
dc.identifier.urihttp://hdl.handle.net/10147/325911-
dc.description.abstractAbstract 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.-
dc.language.isoenen
dc.subjectAUTISMen_GB
dc.subjectGENETICSen_GB
dc.titleThe Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analysesen_GB
dc.typeArticleen
dc.language.rfc3066en-
dc.rights.holderJoseph D Buxbaum et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2014-09-04T15:03:18Z-
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