ID
45653
Description
Principal Investigator: Cecilia Lo, PhD, University of Pittsburgh, School of Medicine, Pittsburgh, PA, USA MeSH: Hypoplastic Left Heart Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001256 To understand the genetic etiology of hypoplastic left heart syndrome (HLHS), patients with HLHS were consented and recruited, with blood drawn for DNA extraction and exome sequencing. Using the exome sequencing dataset obtained, rare coding sequence variants were recovered and enrichment analysis was carried out to identify genes and pathways that are likely to contribute to HLHS.
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Versions (1)
- 3/21/23 3/21/23 - Simon Heim
Copyright Holder
Cecilia Lo, PhD, University of Pittsburgh, School of Medicine, Pittsburgh, PA, USA
Uploaded on
March 21, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001256 Hypoplastic Left Heart Syndrome Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status of the subject for hypoplastic left heart syndrome.
- 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 IDs, sex, race, and age of participant.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status of the subject for hypoplastic left heart syndrome.
- 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 IDs, sex, race, and age of participant.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, and tumor status.
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C0503990 (UMLS CUI [1,10])
C0150103 (UMLS CUI [1,2])
C0680174 (UMLS CUI [1,3])
C0872346 (UMLS CUI [1,4])