ID
45934
Descrizione
Principal Investigator: Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: Tetralogy of Fallot,Psychotic Disorders,Schizophrenia,Arthritis, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000837 Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.
collegamento
Keywords
versioni (1)
- 09/03/24 09/03/24 - Madita Rudolph
Titolare del copyright
Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA
Caricato su
9 marzo 2024
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs000837 Whole Genome Sequencing of Two 22q11DS Trios
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file contains subject IDs, consent group information, subject aliases, and 22q.11.2 deletion syndrome case control status.
- The pedigree data table contains subject ID, father and mother IDs, family IDs, and sex.
- This subject sample mapping file 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 data table contains subject gender, 22q11.2 deletion status, tetralogy of Fallot status, other specified schizophrenia spectrum and other psychotic disorder, and juvenile rheumatoid arthritis status.
- This sample attributes data table includes body site where sample was collected, whether DNA was collected from a cell line, analyte type, sequencing center, and whether sample belongs to a proband.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file contains subject IDs, consent group information, subject aliases, and 22q.11.2 deletion syndrome case control status.
- The pedigree data table contains subject ID, father and mother IDs, family IDs, and sex.
- This subject sample mapping file 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 data table contains subject gender, 22q11.2 deletion status, tetralogy of Fallot status, other specified schizophrenia spectrum and other psychotic disorder, and juvenile rheumatoid arthritis status.
- This sample attributes data table includes body site where sample was collected, whether DNA was collected from a cell line, analyte type, sequencing center, and whether sample belongs to a proband.
C0680251 (UMLS CUI [1,2])
C1997894 (UMLS CUI [1,2])
C4521766 (UMLS CUI [1,3])
C0752096 (UMLS CUI [1,4])
C0162789 (UMLS CUI [1,5])
C1512693 (UMLS CUI [2,1])
C0470187 (UMLS CUI [2,2])
C1706086 (UMLS CUI [2,3])
C0030551 (UMLS CUI [2,4])
C1561491 (UMLS CUI [2,5])
C2986417 (UMLS CUI [2,6])
C1997894 (UMLS CUI [1,2])
C0205182 (UMLS CUI [1,3])
C4521766 (UMLS CUI [1,4])
C0680251 (UMLS CUI [2,1])
C0686905 (UMLS CUI [2,2])
C0030551 (UMLS CUI [2,3])
C1561491 (UMLS CUI [2,4])