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

Joseph D. Buxbaum, Nadia Bolshakova, Jessica M. Brownfeld, Richard J L 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. SutcliffePeter Szatmari, Astrid M. Vicente, Veronica Vieland, Louise Gallagher

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Article number34
JournalMolecular Autism
Volume5
Issue number1
DOIs
StatePublished - Jan 1 2014

Fingerprint

Autistic Disorder
National Institutes of Health (U.S.)
National Institute of Mental Health (U.S.)
Exome
Genetic Research
Databases
Checklist
DNA
Public-Private Sector Partnerships
Language Tests
Phenotype
Medical Genetics
North America
Single Nucleotide Polymorphism
Appointments and Schedules
Communication
Head
Genotype
Observation
Genome

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Developmental Neuroscience
  • Developmental Biology
  • Molecular Biology

Cite this

Buxbaum, J. D., Bolshakova, N., Brownfeld, J. M., Anney, R. J. L., Bender, P., Bernier, R., ... Gallagher, L. (2014). The Autism Simplex Collection: An international, expertly phenotyped autism sample for genetic and phenotypic analyses. Molecular Autism, 5(1), [34]. https://doi.org/10.1186/2040-2392-5-34

The Autism Simplex Collection : An international, expertly phenotyped autism sample for genetic and phenotypic analyses. / Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J L; 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.

In: Molecular Autism, Vol. 5, No. 1, 34, 01.01.2014.

Research output: Contribution to journalArticle

Buxbaum, JD, Bolshakova, N, Brownfeld, JM, Anney, RJL, Bender, P, Bernier, R, Cook, EH, Coon, H, Cuccaro, M, Freitag, CM, Hallmayer, J, Geschwind, D, Klauck, SM, Nurnberger, JI, Oliveira, G, Pinto, D, Poustka, F, Scherer, SW, Shih, A, Sutcliffe, JS, Szatmari, P, Vicente, AM, Vieland, V & Gallagher, L 2014, 'The Autism Simplex Collection: An international, expertly phenotyped autism sample for genetic and phenotypic analyses', Molecular Autism, vol. 5, no. 1, 34. https://doi.org/10.1186/2040-2392-5-34
Buxbaum, Joseph D. ; Bolshakova, Nadia ; Brownfeld, Jessica M. ; Anney, Richard J L ; 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. / The Autism Simplex Collection : An international, expertly phenotyped autism sample for genetic and phenotypic analyses. In: Molecular Autism. 2014 ; Vol. 5, No. 1.
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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.",
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T1 - The Autism Simplex Collection

T2 - An international, expertly phenotyped autism sample for genetic and phenotypic analyses

AU - Buxbaum, Joseph D.

AU - Bolshakova, Nadia

AU - Brownfeld, Jessica M.

AU - Anney, Richard J L

AU - Bender, Patrick

AU - Bernier, Raphael

AU - Cook, Edwin H.

AU - Coon, Hilary

AU - Cuccaro, Michael

AU - Freitag, Christine M.

AU - Hallmayer, Joachim

AU - Geschwind, Daniel

AU - Klauck, Sabine M.

AU - Nurnberger, John I.

AU - Oliveira, Guiomar

AU - Pinto, Dalila

AU - Poustka, Fritz

AU - Scherer, Stephen W.

AU - Shih, Andy

AU - Sutcliffe, James S.

AU - Szatmari, Peter

AU - Vicente, Astrid M.

AU - Vieland, Veronica

AU - Gallagher, Louise

PY - 2014/1/1

Y1 - 2014/1/1

N2 - 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.

AB - 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.

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