ID
45539
Descripción
Principal Investigator: Hervé Tettelin, PhD, Institute for Genome Sciences, University of Maryland School of Medicine, MD, USA MeSH: Mycobacterium avium-intracellulare Infection https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000719 This project aims at characterizing the human host susceptibility to pulmonary non-tuberculous mycobacterial (PNTM) infections. PNTM infections occur in patients with chronic lung disease, but also in a distinct group of elderly women without lung defects but who share a common body morphology: tall and lean with scoliosis, pectus excavatum, and mitral valve prolapse. We performed whole exome and genome sequencing in extended families of patients with active PNTM. This unique collection of familial cohorts in PNTM represents an important opportunity for a high yield search for genes that regulate mucosal immunity. We also sequenced the genome of mycobacterial isolates from PNTM patients to integrate host PNTM susceptibility with mycobacterial genotypes and gain insights into the key factors involved in this devastating disease.
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Versiones (1)
- 3/1/23 3/1/23 - Simon Heim
Titular de derechos de autor
Hervé Tettelin, PhD, Institute for Genome Sciences, University of Maryland School of Medicine, MD, USA
Subido en
3 de enero de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000719 Genetic Basis of Pulmonary Non-tuberculous Mycobacterial Infections
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and subject affection status for pulmonary non-tuberculous mycobacterial (PNTM) infections .
- The pedigree table includes subject ID, family ID, father and mother ID, subject gender, and twin ID to link subjects of the same family.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as 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 includes subject gender and year of birth.
- This sample attributes table includes body site where sample was extracted, analyte type, and tumor status.
- This data table includes a mapping of subject IDs to SRA accessions for whole genome sequences of mycobacterial isolates. The whole genome sequences are available publicly through SRA.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and subject affection status for pulmonary non-tuberculous mycobacterial (PNTM) infections .
- The pedigree table includes subject ID, family ID, father and mother ID, subject gender, and twin ID to link subjects of the same family.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as 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 includes subject gender and year of birth.
- This sample attributes table includes body site where sample was extracted, analyte type, and tumor status.
- This data table includes a mapping of subject IDs to SRA accessions for whole genome sequences of mycobacterial isolates. The whole genome sequences are available publicly through SRA.
C0680251 (UMLS CUI [1,2])
C0015576 (UMLS CUI [1,2])
C0349650 (UMLS CUI [1,3])