ID
45934
Descripción
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.
Link
Palabras clave
Versiones (1)
- 3/9/24 3/9/24 - Madita Rudolph
Titular de derechos de autor
Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA
Subido en
March 9, 2024
DOI
Para solicitar uno, por favor iniciar sesión.
Licencia
Creative Commons BY 4.0
Comentarios del modelo :
Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.
Comentarios de grupo de elementos para :
Comentarios del elemento para :
Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.
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])