ID

45604

Descrizione

Principal Investigator: Jeremiah M. Scharf, MD, PhD, Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Departments of Neurology and Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA MeSH: Tourette Syndrome,Tics,Neurodevelopmental Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001380 This study consists of three components. The first component includes genome-wide association study (GWAS) data on 695 TS cases and 198 ancestry matched controls from the first TS GWAS of 1285 TS cases and 4964 ancestry matched controls. The second component includes genome-wide association study (GWAS) data on 2106 TS cases from the second TS GWAS of 2716 TS cases and 3762 ancestry matched controls. The third component consists of 438 individuals representing 146 probands with DSM-IV-TR diagnosed Tourette Syndrome and their parents (146 complete parent-offspring trios). These individuals are part of the whole exome sequencing study, aiming to use whole exome sequencing of TS parent-offspring to identify de novo protein-truncating variants (PTVs) that are present in the child with TS but not in either parent. All subjects were collected by the Tourette Association of America International Consortium for Genetics (TAAICG) at seven sites in the United States and Canada. Both affected individuals and unaffected relatives were assessed for the presence of Tourette Syndrome and Chronic (Persistent) Tic Disorder (CTD) using a standardized, semi-structured interview, which has high clinical validity and reliability for the diagnoses of TS and CTD (TSAICG, Am J Hum Genet, 2007 (PMID: 17304708)); Darrow et al., Psychiatric Research, 2015 (PMID: 26054936)).

collegamento

dbGaP-study=phs001380

Keywords

versioni (1)
  1. 19/02/23 19/02/23 - Chiara Middel
Titolare del copyright

Jeremiah M. Scharf, MD, PhD, Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Departments of Neurology and Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

Caricato su

19 febbraio 2023

DOI

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Licenza

Creative Commons BY 4.0
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dbGaP phs001380 Genomic Studies of Gilles de la Tourette Syndrome

Inglese

Eligibility Criteria

10 moduli  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for Tourette Syndrome (TS).
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
    4. 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.
    5. This subject phenotype table includes sex, race, ethnicity, and sample IDs for the Genome-wide Association Study of Tourette Syndrome.
    6. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for the Genome-wide Association Study of Tourette Syndrome.
    7. This subject phenotype table includes sex, race, ethnicity, and sample IDs for a Follow-up Genome-wide Association Study of Tourette Syndrome.
    8. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for a Follow-up Genome-wide Association Study of Tourette Syndrome.
    9. This subject phenotype table includes sex, race, ethnicity, and sample IDs for Whole Exome Sequencing of Tourette Syndrome Parent and Proband study.
    10. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for Whole Exome Sequencing of Tourette Syndrome Parent and Proband study.
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The cases were required a TS Classification Study Group (TSCSG) diagnosis of definite TS (a DSM-IV-TR diagnosis of TS plus tics observed by an experienced clinician), and available genomic DNA extracted either from blood or cell lines. The exclusion criteria consisted of a history of intellectual disability (ID), tardive tourettism, or other known genetic, metabolic or acquired tic disorders.
Descrizione

Elig.phs001380.v1.p1.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0220952
UMLS CUI [1,4]
C0040517
UMLS CUI [1,5]
C0751900
UMLS CUI [1,6]
C0751901
UMLS CUI [1,7]
C1441672
UMLS CUI [1,8]
C0871685
UMLS CUI [1,9]
C0596545
UMLS CUI [1,10]
C0470187
UMLS CUI [1,11]
C3272453
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0262926
UMLS CUI [2,3]
C3714756
UMLS CUI [2,4]
C3897350
UMLS CUI [2,5]
C0205394
UMLS CUI [2,6]
C0040188
The 198 French Canadian controls were collected in parallel with the French Canadian cases. They were unselected, ancestry matched controls.
Descrizione

Elig.phs001380.v1.p1.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C5206965
UMLS CUI [1,2]
C1698493
UMLS CUI [1,3]
C0009932
UMLS CUI [1,4]
C3841890
UMLS CUI [1,5]
C0150103
Parent-offspring trios were required to have a child proband with a DSM-IV-TR diagnosis of Tourette Syndrome (TS). Trios were preferentially selected for parents without diagnoses of TS or Chronic Tic Disorder (CTD), though trios were not excluded if either (or both) parents had TS or CT. Trios were excluded if a child was known to have intellectual disability, an autism spectrum disorder, psychosis or seizures, though these diagnoses were not formally assessed in all families.
Descrizione

Elig.phs001380.v1.p1.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0008059
UMLS CUI [1,2]
C0702111
UMLS CUI [1,3]
C0220952
UMLS CUI [1,4]
C0011900
UMLS CUI [1,5]
C0040517
UMLS CUI [1,6]
C0030551
UMLS CUI [1,7]
C0522477
UMLS CUI [2,1]
C1298908
UMLS CUI [2,2]
C0680251
UMLS CUI [2,3]
C0030551
UMLS CUI [2,4]
C0040517
UMLS CUI [2,5]
C0008679
UMLS CUI [2,6]
C0040188
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0008059
UMLS CUI [3,3]
C3714756
UMLS CUI [3,4]
C1510586
UMLS CUI [3,5]
C0033975
UMLS CUI [3,6]
C0036572
Ritorna all'inizio della pagina

Similar models

Eligibility Criteria

10 moduli
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for Tourette Syndrome (TS).
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
    4. 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.
    5. This subject phenotype table includes sex, race, ethnicity, and sample IDs for the Genome-wide Association Study of Tourette Syndrome.
    6. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for the Genome-wide Association Study of Tourette Syndrome.
    7. This subject phenotype table includes sex, race, ethnicity, and sample IDs for a Follow-up Genome-wide Association Study of Tourette Syndrome.
    8. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for a Follow-up Genome-wide Association Study of Tourette Syndrome.
    9. This subject phenotype table includes sex, race, ethnicity, and sample IDs for Whole Exome Sequencing of Tourette Syndrome Parent and Proband study.
    10. This sample attributes table includes body site where sample was collected, analyte type, histological type, and tumor status for Whole Exome Sequencing of Tourette Syndrome Parent and Proband study.
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001380.v1.p1.1
Item
The cases were required a TS Classification Study Group (TSCSG) diagnosis of definite TS (a DSM-IV-TR diagnosis of TS plus tics observed by an experienced clinician), and available genomic DNA extracted either from blood or cell lines. The exclusion criteria consisted of a history of intellectual disability (ID), tardive tourettism, or other known genetic, metabolic or acquired tic disorders.
boolean
C1512693 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0220952 (UMLS CUI [1,3])
C0040517 (UMLS CUI [1,4])
C0751900 (UMLS CUI [1,5])
C0751901 (UMLS CUI [1,6])
C1441672 (UMLS CUI [1,7])
C0871685 (UMLS CUI [1,8])
C0596545 (UMLS CUI [1,9])
C0470187 (UMLS CUI [1,10])
C3272453 (UMLS CUI [1,11])
C0680251 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C3714756 (UMLS CUI [2,3])
C3897350 (UMLS CUI [2,4])
C0205394 (UMLS CUI [2,5])
C0040188 (UMLS CUI [2,6])
Elig.phs001380.v1.p1.2
Item
The 198 French Canadian controls were collected in parallel with the French Canadian cases. They were unselected, ancestry matched controls.
boolean
C5206965 (UMLS CUI [1,1])
C1698493 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
C3841890 (UMLS CUI [1,4])
C0150103 (UMLS CUI [1,5])
Elig.phs001380.v1.p1.3
Item
Parent-offspring trios were required to have a child proband with a DSM-IV-TR diagnosis of Tourette Syndrome (TS). Trios were preferentially selected for parents without diagnoses of TS or Chronic Tic Disorder (CTD), though trios were not excluded if either (or both) parents had TS or CT. Trios were excluded if a child was known to have intellectual disability, an autism spectrum disorder, psychosis or seizures, though these diagnoses were not formally assessed in all families.
boolean
C0008059 (UMLS CUI [1,1])
C0702111 (UMLS CUI [1,2])
C0220952 (UMLS CUI [1,3])
C0011900 (UMLS CUI [1,4])
C0040517 (UMLS CUI [1,5])
C0030551 (UMLS CUI [1,6])
C0522477 (UMLS CUI [1,7])
C1298908 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0030551 (UMLS CUI [2,3])
C0040517 (UMLS CUI [2,4])
C0008679 (UMLS CUI [2,5])
C0040188 (UMLS CUI [2,6])
C0680251 (UMLS CUI [3,1])
C0008059 (UMLS CUI [3,2])
C3714756 (UMLS CUI [3,3])
C1510586 (UMLS CUI [3,4])
C0033975 (UMLS CUI [3,5])
C0036572 (UMLS CUI [3,6])
Ritorna all'inizio della pagina 

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