ID
45415
Beschreibung
Principal Investigator: Christopher A. Walsh, PhD, Children's Hospital Corporation, Boston, MA, USA MeSH: Autism Spectrum Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000639 The goal of this proposal is to bring together the power of 1) whole exome sequencing, 2) homozygosity mapping in consanguineous families, 3) genome-wide maps of neuronal transcription in response to neuronal activity, and 4) genome-wide maps of the binding sites of factors that regulate this transcription to generate and annotate a catalog of ASD-associated variants. The consanguineous families are already enrolled in research, and have been phenotyped. The neuronal transcription and binding site maps will be developed by the Greenberg Lab at Harvard Medical School. The whole exome sequencing will be done at the Broad Institute, and the Walsh lab at Children's Hospital will validate the results and analyze the variant data.
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Versionen (1)
- 23.11.22 23.11.22 - Simon Heim
Rechteinhaber
Christopher A. Walsh, PhD, Children's Hospital Corporation, Boston, MA, USA
Hochgeladen am
23. November 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000639 Human Autism Genetics and Activity Dependent Gene Activation
This subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of autism spectrum disorders (ASD).
- StudyEvent: SEV1
- This subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of autism spectrum disorders (ASD).
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subject.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs, sample aliases, and sample use.
- This subject phenotype data table contains age of subject at sample collection, race, and sex.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
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This subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of autism spectrum disorders (ASD).
- StudyEvent: SEV1
- This subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of autism spectrum disorders (ASD).
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subject.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs, sample aliases, and sample use.
- This subject phenotype data table contains age of subject at sample collection, race, and sex.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])