ID
45845
Descrição
Principal Investigator: Jonathan Sebat, PhD, University of California San Diego, CA, USA MeSH: Autism Spectrum Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001164 pWe will apply whole genome sequencing of trio families to determine how patterns of germline mutation throughout the genome determine risk for Autism Spectrum Disorder (ASD). We will investigate the nature intrinsic hypermutability and the extrinsic forces, such as paternal age, that influence rates of germline mutation. We will accomplish these goals through the following specific aims: Specific Aim 1 will characterize germline de novo mutations (DNMs) by whole genome sequencing in families. These studies will identify and validate ~8,000 de novo point mutations and structural variants in trios and controls to determine the parent of origin of DNMs. Specific Aim 2 will identify hot spots for germline mutation based on the regional density of DNMs in the genome, and determine the effects of DNA sequence features on rates of mutation. We will determine the association of mutation hotspots with ASD in the discovery sample and in genomic datasets from an independent sample of 2700 cases and 2700 controls. Specific Aim 3 will characterize the effects of extrinsic factors, including parental age and environment, on genome-wide rates of mutation. We will quantify the effect of paternal age on pathogenic and neutral alleles in sperm and investigate whether some DNMs confer a germline selective advantage. The findings of this study will provide fundamental insights into the genetic basis of autism risk and the genetic mechanism of the observed parental age effects in ASD. We will identify genes that confer significant risk for autism, and we will determine how intrinsic properties of the genome interact with extrinsic forces to determining risk for disease in offspring.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001164
Palavras-chave
Versões (1)
- 06/09/2023 06/09/2023 - Arman Ghanaat
Titular dos direitos
Jonathan Sebat, PhD, University of California San Diego, CA, USA
Transferido a
6 de setembro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001164 The Role of Germline Mutation and Parental Age in Autism Spectrum Disorders
The subject consent file includes subject ID, consent information, subject aliases, and case control status of the subject for Autism Spectrum Disorders.
- StudyEvent: SEV1
- The subject consent file includes subject ID, consent information, subject aliases, and case control status of the subject for Autism Spectrum Disorders.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, and twin ID.
- This data table 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 aliases and sample use.
- This subject phenotype table contains subject ID, age, sex, race, and phenotype description.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and tumor status.
Similar models
The subject consent file includes subject ID, consent information, subject aliases, and case control status of the subject for Autism Spectrum Disorders.
- StudyEvent: SEV1
- The subject consent file includes subject ID, consent information, subject aliases, and case control status of the subject for Autism Spectrum Disorders.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, and twin ID.
- This data table 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 aliases and sample use.
- This subject phenotype table contains subject ID, age, sex, race, and phenotype description.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and tumor status.
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])