ID
45623
Beschrijving
Principal Investigator: MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001348 We aim to use whole-genome medical sequencing (WGMS) to discover causative molecular lesions for a set of rare, severe phenotypes hypothesized to be caused by either somatic mutations, germline de nova heterozygous mutations, germline inherited recessive, or germline inherited dominant mutations in currently unknown or uncharacterized genes. The goal of this research is threefold: to identify causative sequence variants for disorders whose molecular etiology was previously unknown, to apply this insight to both the rare disorders under study and more common phenotypes, and to enhance the study of mutation on a genome-wide level.
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Versies (1)
- 27-02-23 27-02-23 - Simon Heim
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dbGAP
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27 februari 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001348 Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, family ID, father ID, mother ID, twin ID, and sex of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, sample ID, and sample use variable of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, race, sex, and diagnosis of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Sample ID, analtype type, body site where sample was obtained, tumor status of sample, sequencing center, genotyping center, and histological type of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, family ID, father ID, mother ID, twin ID, and sex of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, sample ID, and sample use variable of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Subject ID, race, sex, and diagnosis of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
- Sample ID, analtype type, body site where sample was obtained, tumor status of sample, sequencing center, genotyping center, and histological type of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.
C0680251 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C2924406 (UMLS CUI [1,4])
C0743626 (UMLS CUI [1,5])