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ID
45900
Beschrijving
Principal Investigator: Bernice Morrow, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: DiGeorge Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000987 Our goal is to find genetic modifiers of major phenotypes in patients with 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velo-cardio-facial syndrome. Whole exome sequencing was performed as part of a contract to the NHLBI, Resequencing and Genotyping Service. We have obtained cardiac phenotype information from the de-identified subjects enrolled in the study, either by echocardiography report or medical doctor report. All of the subjects have a 3 million base pair 22q11.2 deletion flanked by low copy repeats, LCR22, A-D.
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- 12-12-23 12-12-23 - Simon Heim
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Bernice Morrow, Albert Einstein College of Medicine, Bronx, NY, USA
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12 december 2023
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Creative Commons BY 4.0
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dbGaP phs000987 Whole Exome Sequence of 184 Individuals with 22q11.2 Deletion Syndrome
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table contains subjects IDs, consent information, subject aliases, and affection status for 22q11DS.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- This subject sample mapping data table includes 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 includes 22q11.2 deletion syndrome (DS) status, subject's sex, self reported race, and ethnicity, heart anomaly status and type (normal aortic arch, tetralogy of Fallot, persistent truncus arteriosus, unspecified aortic arch anomaly, or pulmonic stenosis.
- This sample attributes data table includes body site where sample was collected, cell line (N/A), analyte type, sequencing center, and proband status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table contains subjects IDs, consent information, subject aliases, and affection status for 22q11DS.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- This subject sample mapping data table includes 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 includes 22q11.2 deletion syndrome (DS) status, subject's sex, self reported race, and ethnicity, heart anomaly status and type (normal aortic arch, tetralogy of Fallot, persistent truncus arteriosus, unspecified aortic arch anomaly, or pulmonic stenosis.
- This sample attributes data table includes body site where sample was collected, cell line (N/A), analyte type, sequencing center, and proband status.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
Inclusion criteria: All individuals have the 3 million base pair 22q11.2 deletion on one allele of chromosome 22. They are all unrelated subjects that have enrolled in the research study with their informed consent and are de-identified for research. They have known cardiac phenotype clinical information. Either gender was included. The subjects are self-reported as Caucasian.
Item
Inclusion criteria: All individuals have the 3 million base pair 22q11.2 deletion on one allele of chromosome 22. They are all unrelated subjects that have enrolled in the research study with their informed consent and are de-identified for research. They have known cardiac phenotype clinical information. Either gender was included. The subjects are self-reported as Caucasian.
boolean
C1512693 (UMLS CUI [1,1])
C1265611 (UMLS CUI [1,2])
C4759731 (UMLS CUI [1,3])
C4521766 (UMLS CUI [1,4])
C0008665 (UMLS CUI [1,5])
C0002085 (UMLS CUI [1,6])
C0445356 (UMLS CUI [2,1])
C4684790 (UMLS CUI [2,2])
C0021430 (UMLS CUI [2,3])
C4684638 (UMLS CUI [2,4])
C0035168 (UMLS CUI [2,5])
C0031437 (UMLS CUI [3,1])
C1522601 (UMLS CUI [3,2])
C2708733 (UMLS CUI [3,3])
C1512693 (UMLS CUI [4,1])
C0079399 (UMLS CUI [4,2])
C5707708 (UMLS CUI [4,3])
C4540954 (UMLS CUI [4,4])
C1265611 (UMLS CUI [1,2])
C4759731 (UMLS CUI [1,3])
C4521766 (UMLS CUI [1,4])
C0008665 (UMLS CUI [1,5])
C0002085 (UMLS CUI [1,6])
C0445356 (UMLS CUI [2,1])
C4684790 (UMLS CUI [2,2])
C0021430 (UMLS CUI [2,3])
C4684638 (UMLS CUI [2,4])
C0035168 (UMLS CUI [2,5])
C0031437 (UMLS CUI [3,1])
C1522601 (UMLS CUI [3,2])
C2708733 (UMLS CUI [3,3])
C1512693 (UMLS CUI [4,1])
C0079399 (UMLS CUI [4,2])
C5707708 (UMLS CUI [4,3])
C4540954 (UMLS CUI [4,4])
Exclusion criteria would be an individual that does not have a 22q11.2 deletion or has unknown cardiac phenotype information.
Item
Exclusion criteria would be an individual that does not have a 22q11.2 deletion or has unknown cardiac phenotype information.
boolean
C0680251 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
C4521766 (UMLS CUI [1,3])
C0439673 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
C1522601 (UMLS CUI [1,6])
C1518422 (UMLS CUI [1,2])
C4521766 (UMLS CUI [1,3])
C0439673 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
C1522601 (UMLS CUI [1,6])