ID
45236
Description
Principal Investigator: Stephen W. Scherer, Hospital for Sick Children, Toronto, Canada MeSH: Autistic Disorder,Autism Spectrum Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000267 Autism spectrum disorders (ASDs) are highly heritable (~90%), yet the underlying genetic determinants are largely unknown. To understand the genetic and phenotypic heterogeneity in ASDs, we analyzed 2,611 strictly defined ASD families with over 1,000,000 single nucleotide polymorphisms (SNPs), and applied multiple analytical strategies to examine these families for SNPs and Copy Number Variation (CNVs) affecting risk for ASDs. Secondary analyses examined associations in more homogenous subgroups. Furthermore, the use of large control datasets permitted contrasting case and control samples and addressed the potential increased burden of rare CNVs in ASD. Our data have allowed us to discern key features of the ASD genomic architecture, find new susceptibility loci, and chart a course for future studies in ASDs.
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Mots-clés
Versions (2)
- 14/07/2022 14/07/2022 - Dr. Christian Niklas
- 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits
Stephen W. Scherer, Hospital for Sick Children, Toronto, Canada
Téléchargé le
12 octobre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000267 Autism Genome Project (AGP) Consortium - GWAS - Stage I and II
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and their consent group information.
- The pedigree table includes family ID, subject ID, father and mother ID, and subject gender, to link subjects of the same family.
- This subject sample mapping file contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype table includes data collected on sociodemography (n=2 variables; sex and European ancestry) and pyschological and psychiatric observations (n=8 variables; spectrum and strict definition of autism, whether the subject is non verbal and/or verbal, has low or high IQ, and the age of their first word and phrase). This table now also includes the stage of the study in which the individual was present and whether individual is a member of a multiplex or simplex family.
- The sample attributes table includes body site (blood, buccal, or cell line) where sample DNA was collected.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and their consent group information.
- The pedigree table includes family ID, subject ID, father and mother ID, and subject gender, to link subjects of the same family.
- This subject sample mapping file contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype table includes data collected on sociodemography (n=2 variables; sex and European ancestry) and pyschological and psychiatric observations (n=8 variables; spectrum and strict definition of autism, whether the subject is non verbal and/or verbal, has low or high IQ, and the age of their first word and phrase). This table now also includes the stage of the study in which the individual was present and whether individual is a member of a multiplex or simplex family.
- The sample attributes table includes body site (blood, buccal, or cell line) where sample DNA was collected.
C0015576 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
C0430022 (UMLS CUI [1,4])
C0851352 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])