ID
45121
Beschrijving
Principal Investigator: Dianna M. Milewicz, MD, PhD, University of Texas Health Science Center at Houston, Houston, TX, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000347 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. Acute aortic dissections are a common cause of premature death in the United States, ranking as high as the 15th leading cause of death. The goal of the Familial Thoracic Aortic Aneurysm and Dissection (TAAD) study at the University of Texas Health Science Center at Houston is to identify the genes causing thoracic aortic disease, and prevent premature deaths due to aortic dissections by identifying individuals who are genetically predisposed to the disease and initiating medical and surgical therapies to prevent dissections. In this study ("NHLBI GO-ESP Family Studies: Aortic Disease"), we have selected a series of families from the TAAD study, and are performing exome sequencing of 2 to 3 individuals per family.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000347
Trefwoorden
Versies (2)
- 10-09-22 10-09-22 - Simon Heim
- 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten
Dianna M. Milewicz, MD, PhD, University of Texas Health Science Center at Houston, Houston, TX, USA
Geüploaded op
10 september 2022
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs000347 NHLBI GO-ESP: Family Studies (Aortic Disease)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs and consent group information.
- The data table contains mapping of study subject IDs to sample IDs of subjects with thoracic aortic aneurysm and/or dissection. 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 dataset also includes sample aliases and sample use.
- The subject phenotype data table includes the affected status for thoracic aortic aneurysm and/or dissection, age of diagnosis, sociodemographic information (n=2 variables; sex and race), and family relationships (n=3 variables).
- The sample attributes data table includes sample analyte type (DNA), body site where sample was extracted, histological type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs and consent group information.
- The data table contains mapping of study subject IDs to sample IDs of subjects with thoracic aortic aneurysm and/or dissection. 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 dataset also includes sample aliases and sample use.
- The subject phenotype data table includes the affected status for thoracic aortic aneurysm and/or dissection, age of diagnosis, sociodemographic information (n=2 variables; sex and race), and family relationships (n=3 variables).
- The sample attributes data table includes sample analyte type (DNA), body site where sample was extracted, histological type, and tumor status.
C0011900 (UMLS CUI [1,2])
C3809514 (UMLS CUI [1,3])
C0162872 (UMLS CUI [1,4])
C1512693 (UMLS CUI [2,1])
C0241889 (UMLS CUI [2,2])
C3809514 (UMLS CUI [2,3])
C0162872 (UMLS CUI [2,4])
C0019247 (UMLS CUI [1,2])
C0026882 (UMLS CUI [1,3])
C0678227 (UMLS CUI [1,4])
C0162872 (UMLS CUI [1,5])
C3809514 (UMLS CUI [1,6])