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NDAR provides a single access to de-identified autism research data. For permission to download data, you will need an NDAR account with approved access to NDAR or a connected repository (AGRE, IAN, or the ATP). For NDAR access, you need to be a research investigator sponsored by an NIH recognized institution with federal wide assurance. See Request Access for more information.

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The filters you have selected from various query interfaces will be stored here, in the 'Filter Cart'. The database will be queried using filters added to your 'Filter Cart', when multiple filters are defined, each will be executed using 'AND' logic, so with each filter that is applied the result set gets smaller.

From the 'Filter Cart' you can inspect each of the filters that have been defined, and you also have the option to remove filters. The 'Filter Cart' itself will display the number of filters applied along with the number of subjects that are identified by the combination of those filters. For example a GUID filter with two subjects, followed by a GUID filter for just one of those subjects would return only data for the subject that is in both GUID filters.

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1 Numbers reported are subjects by age
New Trial
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Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

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New Documentation

Please enter the name of the data structure to search or if your definition does not exist, please upload that definition so that it can be appropriately defined for submission. Multiple data structures may be associated with a single Data Expected entry. Please add only one data structure per assessment.

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Shared

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

General

Title, investigators, and Collection Description may be edited along with the Collection Phase. For Collection Phase, the options Pre-enrollment, Enrollment, and Completed can be chosen allowing the Collection Owner to indicate the stage of data collection.

Funding Source

The ability to associate the funding source for the project is provided. For NIH funded grants, linkage to Project Reporter information (e.g. R01MH123456) is supported. Projects funded by others, including the URL of the project, are listed. Non NIH funded projects will become available here to link that data with the appropriate funding agency.

Supporting Documentation

Any documents related to the project may be uploaded clarifying the data or acquisition methods used may be uploaded and made available here. The default is to share these documents to the general public. An option to share only to qualified Researchers is also an option.

Clinical Trials

For clinical trials, the option to link to the clinical trial in clinicaltrials.gov is optionally provided.

Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Sequencing Autism Spectrum Disorder Extended Pedigrees (1/3, 2/3, and 3/3)
Gerard Schellenberg, Hilary Coon and Ellen Wijsman 
We have in hand a unique resource of extended autism spectrum disorder (ASD) pedigrees. We will sequence family members from the most informative pedigrees to study genetic variation contributing to ASD and related phenotypes. We will work to discover new variation, and also use the resource to characterize variants in conjunction with existing whole exome data available through our collaborations. We will test findings in up to 10 other families available from the Autism Genome Project (AGP) network of collaborators. We will also make the resource available to the broader scientific community. Extended families offer an excellent opportunity to identify and study genetic variation, giving a complementary approach to ongoing studies of simplex and small multiplex families. The current collection of families represents some of the largest pedigrees with ASD in the world. We have already detected significant linkage evidence in some of these families with clinical diagnosis and also with related phenotypes. Sequence data in these extended families will result in highly accurate and complete genetic information. We will identify familial variation in these data, and predict potentially damaging variants using new informatics approaches. We will refine information about risk by comparing to ongoing sequence projects. We will also use the ongoing sequence projects to help prioritize the familial variant discovery, and choose the best for replication efforts in other AGP families. Finally, we will investigate sequence variants found by simplex/small family sequencing to determine specificity and penetrance in our extended families. Our proposed project will benefit from the continued collaboration of world-class molecular, analytic, and clinical expertise in the Autism Genome Project to enable the most effective use of this unique resource.
NDAR
Enrollment Completed
Shared
$3,422,258.00
3,715
63
204

No Data Shared

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Chart Expander
NIH - Extramural None

Summary_Information_for_SNP_Linkage_Analysis_Data.pdf Background Summary Information for SNP Linkage Analysis Data Qualified Researchers

R01MH094293-01 2/3 Sequencing Autism Spectrum Disorder Extended Pedigrees 06/01/2012 04/30/2018 55 Not Reported UNIVERSITY OF WASHINGTON $1,149,418.00
R01MH094382-01 3/3-Sequencing Autism Spectrum Disorder Extended Pedigrees 06/01/2012 02/28/2017 Not Reported Not Reported UNIVERSITY OF PENNSYLVANIA $793,600.00
R01MH094400-01 1/3 - Sequencing Autism Spectrum Disorder Extended Pedigrees 06/01/2012 02/28/2017 8 204 UNIVERSITY OF UTAH $1,479,240.00

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Experiments

To create a new Omics, eye tracking, fMRI, or EEG experiment, press the "+ New Experiment" button. Once an experiment is created, then raw files for these types of experiments should be provided, associating the experiment – through Experiment_ID – with the metadata defined in the experiments interface.

IDNameCreated DateStatusType
137pedigree exomes March 201403/13/2014ApprovedOmics
136OmniExpressMarch201403/11/2014ApprovedOmics
110Genotyping Project11/14/2013ApprovedOmics
393SNP genome scan-510/29/2015ApprovedOmics
394SNP genome scan-610/29/2015ApprovedOmics
395SNP genome scan-710/29/2015ApprovedOmics
396SNP genome scan-810/29/2015ApprovedOmics
397SNP genome scan-910/29/2015ApprovedOmics
392SNP genome scan-410/29/2015ApprovedOmics

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Shared Data

Data structures with the number of subjects submitted and shared are provided.

Aberrant Behavior Checklist (ABC) - Community Clinical Assessments 693
Anthropometric Information Clinical Assessments 1962
Autism Diagnostic Interview - Cumulative Clinical Assessments 430
Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 326
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 172
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 161
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 267
BASC Parent Rating Scale Adolescent Clinical Assessments 466
Broad Autism Phenotype Questionnaire (BAPQ) Clinical Assessments 482
CADS-P Clinical Assessments 443
CELF Preschool Clinical Assessments 138
CELF-3 Clinical Eval of Lang Fundamentals, 3th ed Clinical Assessments 362
CELF-4 Clinical Eval of Lang Fundamentals, 4th ed Clinical Assessments 94
Comprehensive Test of Phonological Processing (CTOPP) Clinical Assessments 1090
DAS-II: Differential Ability Scales 2nd Ed. School Age Clinical Assessments 175
Developmental Behavior Checklist Clinical Assessments 195
Expanded Token Test Clinical Assessments 696
Genomics Sample Genomics 803
Genomics Subject Genomics 1726
Leiter International Performance Scale-Revised (Leiter-R), Visualization and Reasoning Battery Clinical Assessments 8
Mullen Scales of Early Learning Clinical Assessments 42
Peabody Picture Vocabulary Test, Fourth Edition-Form A Clinical Assessments 526
Repetitive Behavior Scale - Revised (RBS-R) (2000) Clinical Assessments 224
SRS-2. Adult, Preschool and School Age Clinical Assessments 1601
Social Communication Questionnaire (SCQ) - Lifetime Clinical Assessments 581
Stanford-Binet Intelligence Scales, Fifth Edition (SB5) Clinical Assessments 43
Vineland I Clinical Assessments 390
Vineland-II - Parent and Caregiver Rating Form (2005) Clinical Assessments 318
Wechsler Abbreviated Scale of Intelligence (WASI) Clinical Assessments 660
Wechsler Adult Intelligence Scale Fourth Edition [part 1] Clinical Assessments 109
Wechsler Adult Intelligence Scale III Clinical Assessments 338
Wechsler Intelligence Scale for Children III Clinical Assessments 166

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Publications

Publications relevant to NDAR data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed IDStudyTitleJournalAuthorsDateStatus
27980662Create StudyEstimating relationships between phenotypes and subjects drawn from admixed families.BMC proceedingsBlue EM, Brown LA, Conomos MP, Kirk JL, Nato AQ, Popejoy AB, Raffa J, Ranola J, Wijsman EM, Thornton TJanuary 2016Not Relevant
27980652Create StudyIdentity-by-descent estimation with population- and pedigree-based imputation in admixed family data.BMC proceedingsSaad M, Nato AQ, Grimson FL, Lewis SM, Brown LA, Blue EM, Thornton TA, Thompson EA, Wijsman EMJanuary 2016Not Relevant
27562213Create StudyVARPRISM: incorporating variant prioritization in tests of de novo mutation association.Genome medicineHu H, Coon H, Li M, Yandell M, Huff CDAugust 2016Not Determined
27535846Create StudyMultipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.Human geneticsTruong DT, Shriberg LD, Smith SD, Chapman KL, Scheer-Cohen AR, Demille MM, Adams AK, Nato AQ, Wijsman EM, Eicher JD, Gruen JRDecember 2016Not Relevant
27178863Create StudyEarly event-related potentials to emotional faces differ for adults with autism spectrum disorder and by serotonin transporter genotype.Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyFaja S, Dawson G, Aylward E, Wijsman EM, Webb SJJune 2016Not Determined
27120335Create StudyGenetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PloS onePeter B, Wijsman EM, Nato AQ, Matsushita MM, Chapman KL, Stanaway IB, Wolff J, Oda K, Gabo VB, Raskind WHJanuary 2016Not Determined
26866700Create StudyFamily-based approaches: design, imputation, analysis, and beyond.BMC geneticsWijsman EM2016Not Relevant
26231429Create StudyPBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers.Bioinformatics (Oxford, England)Nato AQ, Chapman NH, Sohi HK, Nguyen HD, Brkanac Z, Wijsman EMDecember 1, 2015Not Relevant
26204995Create StudyWhole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.Human geneticsChapman NH, Nato AQ, Bernier R, Ankenman K, Sohi H, Munson J, Patowary A, Archer M, Blue EM, Webb SJ, Coon H, Raskind WH, Brkanac Z, Wijsman EMOctober 2015Not Determined
25640677Create StudyJoint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.American journal of human geneticsMaier R, Moser G, Chen GB, Ripke S, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SHFebruary 5, 2015Not Relevant
25599223Create StudyPsychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.Nature neuroscienceFebruary 2015Not Determined
25519371Create StudyIdentity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses.BMC proceedingsBlue EM, Cheung CY, Glazner CG, Conomos MP, Lewis SM, Sverdlov S, Thornton T, Wijsman EM2014Not Determined
25519330Create StudyEstimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing.BMC proceedingsThornton T, Conomos MP, Sverdlov S, Blue EM, Cheung CY, Glazner CG, Lewis SM, Wijsman EM2014Not Determined
25392729Create StudyThe Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.Molecular autismBuxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, 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 L2014Not Determined
25363760Create StudySynaptic, transcriptional and chromatin genes disrupted in autism.NatureDe Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, et al.November 13, 2014Not Relevant
25313507Create StudySLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.Translational psychiatryBowton E, Saunders C, Reddy IA, Campbell NG, Hamilton PJ, Henry LK, Coon H, Sakrikar D, Veenstra-VanderWeele JM, Blakely RD, Sutcliffe J, Matthies HJ, Erreger K, Galli A2014Not Determined
25241009Create StudySpatial relative risk patterns of autism spectrum disorders in Utah.Journal of autism and developmental disordersBakian AV, Bilder DA, Coon H, McMahon WMApril 2015Not Determined
25132070Create StudyCombining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees.Genetic epidemiologySaad M, Wijsman EMNovember 2014Not Determined
25112184Create StudyValue of Mendelian laws of segregation in families: data quality control, imputation, and beyond.Genetic epidemiologyBlue EM, Sun L, Tintle NL, Wijsman EMSeptember 2014Not Determined
24837662Create StudyA unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Nature biotechnologyHu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya , Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CDJuly 2014Not Determined
24768552Create StudyConvergence of genes and cellular pathways dysregulated in autism spectrum disorders.American journal of human geneticsPinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, et al.May 1, 2014Not Determined
24718985Create StudyDetection of Mendelian consistent genotyping errors in pedigrees.Genetic epidemiologyCheung CY, Thompson EA, Wijsman EMMay 2014Not Determined
24507777Create StudyA statistical framework to guide sequencing choices in pedigrees.American journal of human geneticsCheung CY, Marchani Blue E, Wijsman EMFebruary 6, 2014Not Determined
24243664Create StudyPower of family-based association designs to detect rare variants in large pedigrees using imputed genotypes.Genetic epidemiologySaad M, Wijsman EMJanuary 2014Not Determined
24167172Create StudyMaternal prenatal weight gain and autism spectrum disorders.PediatricsBilder DA, Bakian AV, Viskochil J, Clark EA, Botts EL, Smith KR, Pimentel R, McMahon WM, Coon HNovember 2013Not Determined
23943636Create StudyDRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments.Bioinformatics (Oxford, England)Lin CF, Valladares O, Childress DM, Klevak E, Geller ET, Hwang YC, Tsai EA, Schellenberg GD, Wang LSOctober 1, 2013Not Determined
23933821Create StudyGenetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nature geneticsCross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, et al.September 2013Not Determined
23594493Create StudyIdentification of rare variants from exome sequence in a large pedigree with autism.Human heredityMarchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM2012Not Determined
23593035Create StudyAnalysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.PLoS geneticsLiu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, et al.April 2013Not Determined
23561844Create StudyGIGI: an approach to effective imputation of dense genotypes on large pedigrees.American journal of human geneticsCheung CY, Thompson EA, Wijsman EMApril 4, 2013Not Determined
23453885Create StudyIdentification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.Lancet (London, England)April 2013Not Relevant
23259942Create StudyThe autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.NeuronBuxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, Autism Sequencing ConsortiumDecember 20, 2012Not Determined
23008058Create StudyExcess mortality and causes of death in autism spectrum disorders: a follow up of the 1980s Utah/UCLA autism epidemiologic study.Journal of autism and developmental disordersBilder D, Botts EL, Smith KR, Pimentel R, Farley M, Viskochil J, McMahon WM, Block H, Ritvo E, Ritvo RA, Coon HMay 2013Not Determined
22843504Create StudyIndividual common variants exert weak effects on the risk for autism spectrum disorderspi.Human molecular geneticsAnney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, et al.November 1, 2012Not Determined

This tab provides a general status on the data expected to be shared. There are two types of data expected.

  1. By Relevant publications — Those publications that reported for the collection's grant and have a status of "relevant" for sharing are listed first. The grantee is expected to share the data specific to those publications using the NDA Study feature. If a publication is erroneously marked relevant, the PI should simply change the status. When sharing a study, only the outcome measures for the subjects/time-points are shared. Other data that have not met the share date, defined below, will remain embargoed. To initiate study creation, simply login, mark your publication as relevant and click on the link listed to begin.

  2. By Data Structure — The number of subjects expected, received and shared is provided. Investigators are expected to update the data that they are collecting, the initial submission date and initial share dates. The NIMH Data Archive shares data when those dates are met.

  3. Submission Exemption — Those with Administrative or Submission Access to the Collection may request an exemption for submission for a defined period by stating the reason and timeframe. Note that the program officer on the grant may review this request.


Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
No records found.

For those with privileges to edit the collection, it is possible to upload your data definitions using this interface. NDA support staff will then follow up with a harmonized data definition for you to use in providing additional data.

Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
Medication List info iconApproved
Vineland (Parent and Caregiver) info iconApproved
Physical Exam info iconApproved
Broad Autism Phenotype Questionnaire (BAPQ) info iconApproved
Child Anxiety and Depression Scale - Parent (RCAD-P) info iconApproved
Leiter International Performance Scale-Revised (Leiter-R) info iconApproved
Mullen Scales of Early Learning info iconApproved
Repetitive Behavior Scale - Revised (RBS-R) info iconApproved
Stanford Binet info iconApproved
Wechsler Abbreviated Scale of Intelligence (WASI) info iconApproved
Wechsler Adult Intelligence Scale info iconApproved
DAS-II: Differential Ability Scales info iconApproved
Broader Phenotype Autism Symptom Scale (BPASS) info iconApproved
Behavior Assessment System for Children (BASC) info iconApproved
Clinical Evaluation of Language Fundamentals (CELF) info iconApproved
Comprehensive Test of Phonological Processing (CTOPP) info iconApproved
Conners info iconApproved
Developmental Behavior Checklist info iconApproved
genomics/omics info iconApproved
Expanded Token Test info iconApproved
Peabody Picture Vocabulary Test, Fourth Edition info iconApproved
Social Communication Questionnaire (SCQ) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
ADOS info iconApproved
Research Subject and Pedigree info iconApproved
Wechsler Intelligence Scale for Children info iconApproved
ADI-R info iconApproved
Medical History info iconApproved
ABC Community info iconApproved
Structure not yet defined

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.