ID

45936

Description

Principal Investigator: David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA MeSH: Type 2 Diabetes Mellitus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000840 The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analyses. While they have proved successful at mapping genomic loci that influence human diseases, like type 2 diabetes, much of the heritability remains unexplained. In this study, we use next generation sequencing and genotyping technologies to query for lower frequency variants in the human genome. Thereby, allowing a deeper characterization of the spectrum of alleles associated with type 2 diabetes risk, and a better assessment of the genes that play a role in the etiology of type 2 diabetes development. We studied 1,326 T2D cases and 1,331 normoglycemic controls from Northern and Central Europe (Sweden, Finland, UK, and Germany). To efficiently characterize the entire genome sequence of each individual, we performed low-coverage (~5x) whole-genome sequencing, augmented by deep coverage (~100x) sequencing of the exome (Fuchsberger et al, 2016), and dense (2.5M) single nucleotide polymorphism (SNP) genotyping using the HumanOmni2.5 array. The data deposited in dbGaP will include all the Swedish, Finnish, and UK samples, but the German data will be deposited in the European Genome-phenome Archive (EGA), by virtue of the project specific funding requirements.

Lien

dbGaP study=phs000840

Mots-clés

  1. 09/03/2024 09/03/2024 - Madita Rudolph
Détendeur de droits

David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA

Téléchargé le

9 mars 2024

DOI

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Licence

Creative Commons BY 4.0

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dbGaP phs000840 GoT2D

Subject - Sample Mapping - Sample Use

pht005642
Description

pht005642

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Type de données

string

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

SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Description

SAMPLE_USE

Type de données

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject - Sample Mapping - Sample Use

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005642
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
SNP and CNV genotypes derived from sequence data (Seq_DNA_SNP_CNV)
CL Item
Whole exome sequencing (Seq_DNA_WholeExome)
C3640077 (UMLS CUI [1,1])
CL Item
Whole genome sequencing (Seq_DNA_WholeGenome)
C3640076 (UMLS CUI [1,1])

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