ID
45243
Beschrijving
Principal Investigator: Mark Daly, PhD, The Broad Institute, MA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000298 The ARRA Autism Sequencing Collaboration was created in 2010 bringing together expert large-scale sequencing center (at the Baylor College of Medicine, PI Richard Gibbs and the Board Institute of MIT and Harvard, PI Mark J. Daly) and a collaborative network of research labs focused on the genetics of autism (brought together by the Autism Genome Project and the Autism Consortium). These groups worked together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism through comprehensive examination of the exotic sequence of all genes. The Autism Sequencing Consortium (ASC) was founded by Joseph D. Buxbaum and colleagues as an international group of scientists who share autism spectrum disorder (ASD) samples and genetic data. The PIs are Drs. Joseph D. Buxbaum (Icahn School of Medicine at Mount Sinai), Mark J. Daly (Broad Institute of MIT and Harvard), Bernie Devlin (University of Pittsburgh School of Medicine), Kathryn Roeder (Carnegie Mellon University, Matthew State and Stephan Sanders (University of California, San Francisco). The rationale for the ASC is described in Buxbaum et al. 2012, and this paper should be cited when referencing the data set. All shared data and analysis is hosted at a single site, which enables joint analysis of large-scale data from many groups. The ASC was first supported by a cooperative agreement grant to four lead sites funded by the National Institute of Mental Health (U01MH100233, U01MH100209, U01MH100229, U01MH100239), with additional support from the National Human Genome Research Institute. The NIMH recently renewed their support with a second grant (U01MH111661, U01MH111660, U01MH111658 and U01MH111662) to expand the project from 29,000 genomes to more than 50,000 exomes over the next 5 years. NHGRI provides ongoing sequencing support for the ASD through the Broad Center for Common Disease Genomics (UM1HG008895, Mark Daly, PI).
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Versies (2)
- 12-07-22 12-07-22 - Dr. Christian Niklas
- 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten
Mark Daly, PhD, The Broad Institute, MA, USA
Geüploaded op
12 oktober 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000298 Autism Sequencing Consortium (ASC)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file contains a list of subject IDs, consents, subject aliases, and affection status (control, case, or parent) for autism spectrum disorders.
- The subject sample mapping file contains a mapping of subject IDs to sample IDs. Samples are the final preps submitted for sequencing. 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. This table also includes sample use.
- The subject phenotype data table includes ADI-R diagnosis, disease onset age, and sex and race of participant.
- The pedigree data table contains subject ID, family ID, father ID, mother ID, and sex.
- The sample attributes data table contains the body site where the sample was collected, analyte type, histological type, analysis category, and sequencing site.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file contains a list of subject IDs, consents, subject aliases, and affection status (control, case, or parent) for autism spectrum disorders.
- The subject sample mapping file contains a mapping of subject IDs to sample IDs. Samples are the final preps submitted for sequencing. 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. This table also includes sample use.
- The subject phenotype data table includes ADI-R diagnosis, disease onset age, and sex and race of participant.
- The pedigree data table contains subject ID, family ID, father ID, mother ID, and sex.
- The sample attributes data table contains the body site where the sample was collected, analyte type, histological type, analysis category, and sequencing site.
C1706256 (UMLS CUI [1,2])
C0004352 (UMLS CUI [1,3])
C1510586 (UMLS CUI [1,4])
C0043157 (UMLS CUI [1,5])
C2350277 (UMLS CUI [1,6])
C4035953 (UMLS CUI [1,7])
C1512693 (UMLS CUI [2,1])
C0043157 (UMLS CUI [2,2])
C0009932 (UMLS CUI [2,3])
C0150103 (UMLS CUI [2,4])