ID
45988
Beschrijving
Principal Investigator: Jeffery M. Vance, MD, PhD, National Institutes of Health, Bethesda, MD, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000908 The focus of this study is to identify a new level of genetic variation, i.e. rare genetic variants with a population frequency less than 5%, usually less than 1%, which are believed to provide a stronger risk per variant than those studied to date in the large genome wide association studies (GWAS). To do this we are generating whole exome sequencing data on the Illumina HiSeq. Each HiSeq produces at least 600 billion base pairs of DNA sequence in one run. Whole exome sequencing sequence data, about 50 million base pairs, or about 1.5% of the total DNA of each person's genome, is generated. We are using this data to look for new DNA variations that give risk for Parkinson disease, as well as "modifiers", that may lead to having more severe or milder disease or later or earlier ages of onset.
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- 08-04-24 08-04-24 - Madita Rudolph
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Jeffery M. Vance, MD, PhD, National Institutes of Health, Bethesda, MD, USA
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8 april 2024
DOI
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Creative Commons BY 4.0
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dbGaP phs000908 Identification of Rare Variants in PD through Whole Exome Sequencing
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes de-identified subject IDs, consent information, and case control status for Parkinson disease.
- This pedigree table includes de-identified family ID, subject ID, father ID, mother ID and subject gender.
- This subject sample mapping 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 use.
- This subject phenotype table contains de-identified subject ID, onset age for cases, race, ethnicity, exam age for controls and subject gender.
- This sample attributes table contains de-identified sample ID, body site where sample was collected, analyte type, tumor status and capture kit.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes de-identified subject IDs, consent information, and case control status for Parkinson disease.
- This pedigree table includes de-identified family ID, subject ID, father ID, mother ID and subject gender.
- This subject sample mapping 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 use.
- This subject phenotype table contains de-identified subject ID, onset age for cases, race, ethnicity, exam age for controls and subject gender.
- This sample attributes table contains de-identified sample ID, body site where sample was collected, analyte type, tumor status and capture kit.
C0680251 (UMLS CUI [1,2])
C0030567 (UMLS CUI [1,2])
C1512693 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C1512693 (UMLS CUI [3,1])
C0021430 (UMLS CUI [3,2])
C0200345 (UMLS CUI [3,3])
C0016884 (UMLS CUI [3,4])
C0035168 (UMLS CUI [3,5])
C0521104 (UMLS CUI [3,6])
C0021430 (UMLS CUI [1,2])
C1299582 (UMLS CUI [1,3])
C0030701 (UMLS CUI [1,4])
C0332197 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C0680251 (UMLS CUI [3,1])
C0021430 (UMLS CUI [3,2])
C0332268 (UMLS CUI [3,3])
C0200345 (UMLS CUI [3,4])
C0016884 (UMLS CUI [3,5])
C0035168 (UMLS CUI [3,6])
C0521104 (UMLS CUI [3,7])
C0080103 (UMLS CUI [1,2])
C0030567 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C0445356 (UMLS CUI [2,2])
C2986479 (UMLS CUI [2,3])
C1512693 (UMLS CUI [3,1])
C0001779 (UMLS CUI [3,2])
C1512693 (UMLS CUI [4,1])
C0021430 (UMLS CUI [4,2])
C0200345 (UMLS CUI [4,3])
C0016884 (UMLS CUI [4,4])
C0035168 (UMLS CUI [4,5])
C0521104 (UMLS CUI [4,6])
C0030567 (UMLS CUI [1,2])
C0680251 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C1299582 (UMLS CUI [2,3])
C0030701 (UMLS CUI [2,4])
C0332197 (UMLS CUI [2,5])
C0680251 (UMLS CUI [3,1])
C0001779 (UMLS CUI [3,2])
C0680251 (UMLS CUI [4,1])
C0021430 (UMLS CUI [4,2])
C0332268 (UMLS CUI [4,3])
C0200345 (UMLS CUI [4,4])
C0016884 (UMLS CUI [4,5])
C0035168 (UMLS CUI [4,6])
C0521104 (UMLS CUI [4,7])