ID

45464

Descrizione

Principal Investigator: Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000473 Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polygenic model displaying the full spectrum of causal alleles that includes the extremes of rare, penetrant alleles as well as common alleles of small effect. Lower frequency polymorphism, rare variants and private mutations have eluded measurement by GWAS studies and thus association with disease. In order to create a comprehensive catalogue of low frequency or rare coding variation in individuals with psychiatric disease and to build a foundation for future genetic studies of schizophrenia and bipolar disorder, we have obtained whole exome DNA sequence from a population-based schizophrenia and bipolar disorder Swedish case-control cohort.

collegamento

dbGap study = phs000473

Keywords

  1. 20/10/22 20/10/22 - Simon Heim
  2. 13/12/22 13/12/22 - Kristina Keller
Titolare del copyright

Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA

Caricato su

13 dicembre 2022

DOI

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Licenza

Creative Commons BY 4.0

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dbGaP phs000473 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing

Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.

pht002599
Descrizione

pht002599

De-identified subject ID
Descrizione

SUBJID

Tipo di dati

text

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Descrizione

SAMPID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Descrizione

SAMP_SOURCE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Sample ID used in the Source Repository
Descrizione

SOURCE_SAMPID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Descrizione

SAMPLE_USE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C0370003
UMLS CUI [1,3]
C0017431
UMLS CUI [1,4]
C3640077

Similar models

Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht002599
SUBJID
Item
De-identified subject ID
text
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Source repository where samples originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SAMPID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
SAMPLE_USE
Item
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
string
C1524063 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
C0017431 (UMLS CUI [1,3])
C3640077 (UMLS CUI [1,4])

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