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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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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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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.

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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
Next Generation Gene Discovery in Familial Autism
Zoran Brkanac 
The goal of this proposal is to identify novel genes that are responsible for autism. To achieve that, we will apply novel analytic approach to identify families from existing UW-ACE and NIH collections where inheritance is most parsimonious with single gene transmission. We will analyze such families with newly available comparative genomic hybridization, target capture and massively parallel sequencing of all protein coding regions of human genome (exome). Our novel approach will likely identify novel autism genes and pave the way for gene identification in other genetic diseases.
NDAR
Closed
Shared
$3,330,602.00
202
102
66
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NIH - Extramural None


R01MH092367-01 Next Generation Gene Discovery in Familial Autism 02/03/2011 12/31/2015 102 66 UNIVERSITY OF WASHINGTON $3,330,602.00

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
151Candidate Gene Identification in familial Autism06/09/2014ApprovedOmics

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.

Autism Diagnostic Observation Schedule (ADOS) - Module 4 Clinical Assessments 3
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 5
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 6
Autism Diagnostic Observation Schedule (ADOS)- Module 3 Clinical Assessments 6
Broader Phenotype Autism Symptom Scale Clinical Assessments 23
CHARGE Family Characteristics Questionnaire Clinical Assessments 21
CHARGE Medical History Clinical Assessments 19
Children's Communication Checklist - 2 Clinical Assessments 19
Communication Checklist - Adult Clinical Assessments 29
Comprehensive Test of Phonological Processing (CTOPP) Clinical Assessments 65
DSM-IV Checklist (Early Steps; SOFAS) Clinical Assessments 23
Family History Interview Clinical Assessments 63
Genomics Sample Genomics 111
Genomics Subject Genomics 111
Modified CHARGE Family Medical History (2007) Clinical Assessments 21
Social Competence Questionnaire (ComQ) Clinical Assessments 20
Social Responsiveness Scale (SRS) Clinical Assessments 10
Social Responsiveness Scale (SRS) - Adult/Self Version Clinical Assessments 32
Vineland-II - Survey Form (2005) Clinical Assessments 18
WechslerIQ_ShortForm Clinical Assessments 60

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
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
25831060Create StudyThe promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders.Omics : a journal of integrative biologyHigdon, Roger; Earl, Rachel K; Stanberry, Larissa; Hudac, Caitlin M; Montague, Elizabeth; Stewart, Elizabeth; Janko, Imre; Choiniere, John; Broomall, William; Kolker, Natali; Bernier, Raphael A; Kolker, EugeneApril 2015Not Relevant
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
24718985Create StudyDetection of Mendelian consistent genotyping errors in pedigrees.Genetic epidemiologyCheung CY, Thompson EA, Wijsman EMMay 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
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
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
22714655Create StudyThe role of large pedigrees in an era of high-throughput sequencing.Human geneticsWijsman EMOctober 2012Not Determined
22095694Create StudyEvidence for involvement of GNB1L in autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsChen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac ZJanuary 2012Not Determined
help.tab.dataexpected

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
No records found.
help.tab.dataexpected.addnew
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
genomics/omics info iconApproved
Broader Phenotype Autism Symptom Scale (BPASS) info iconApproved
Social Responsiveness Scale (SRS) info iconApproved
Comprehensive Test of Phonological Processing (CTOPP) info iconApproved
Social Competence Inventory info iconApproved
Childrens Communication Checklist-2 (CCC-2) info iconApproved
Scale for Early Mathematics Anxiety (SEMA) info iconApproved
DSM IV Criteria info iconApproved
Communication Checklist - Adult info iconApproved
Vineland (Parent and Caregiver) info iconApproved
Wechsler IQ Short Form info iconApproved
Medical History info iconApproved
ADOS 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.

Study Name Description Number of Subjects
Collection / Total
Data Use State
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex families NOTE: NOT ALL DATA HAS BEEN UPLOADED FOR THIS STUDY. Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. 52 / 5288 Primary Analysis Shared
* Data not on individual level
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