Login
Register
Need Help?
ABOUT
ABOUT THE EGA
EGA
Privacy Notice
Security
Team
STATISTICS
Bibliography
Growth
Community
Archive
Distribution
Catalog
PROJECTS AND FUNDERS
Projects
Funders
GA4GH
Federated EGA
Beacon
DISCOVERY
CATALOGUE
Studies
Datasets
DACs
Synthetic Data
METADATA
Search Box
Public Metadata API
SUBMISSION
DATA
File preparation
Uploading files
METADATA
EGA Schema
Sequencing & Phenotype
Submitter Portal
Submitter Portal API
Array
Programmatic Submission XML
ACCESS
DATA ACCESS COMMITTEE
What is a DAC?
Best Practices
DAC Portal
Data Use Conditions
REQUEST DATA
How to request data?
Quality Control Reports
DOWNLOAD
Metadata
Files
PyEGA3
Live Outbox
Visualisation
FUSE Client
EGA QuickView
Tips on how to search
DACs
EGAC00001000391
Type 2 Diabetes GoT2D/T2D-GENES DAC
Contact Information
T2DGenes-Got2D-DAC
t2dgenes-got2d-dac@broadinstitute.org
Request Access
This DAC controls 6 datasets
Dataset ID
Description
Technology
Samples
EGAD00001002246
The T2D-GENES/GoT2D 13K exome sequencing study includes ~13,000 samples, half T2D cases and half T2D controls, from five ancestries (~5K Europeans, ~2K each of African-American, East-Asian, South-Asian, and Hispanic). Samples underwent deep exome sequencing, with SNVs and INDEls called according to GATK best practices; variant sites were then filtered according to the GATK best practices, and then samples and variants underwent further filtering based on aggregate genotype quality as described in Fuchsberger et al. (e.g. low call rate, excess heterozygosity for samples, low call rate or coverage for variants). Please note that one of the samples in the T2D-GENES vcf does not have phenotype data.
13007
EGAD00001002247
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g. leaner, younger cases and older, more obese controls). Genotypes (SNVs, INDELs, and SVs) were called separately for each technology and then integrated via genotype refinement into a single phased reference panel; samples and variants were then excluded based on QC procedures described in Fuchsberger et al. Please note that 2 of the samples in the GoT2D vcf do not have phenotype data.
2872
EGAD00010001184
This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples
-
EGAD00010001185
This data set includes the following summary level data files used for the GoT2D WGS analysis: wgs.assoc.samples.list: list of samples to keep for association analysis wgs.assoc.variants.list: list of variants to keep for association analysis wgs.sv.assoc.txt: single variant association results
-
EGAD00010001187
This data set includes the following summary level data file used for the exome chip analysis: exome_chip.sv.assoc.txt: results from single variant association analysis in exome chip
-
EGAD00010001188
This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.samples.list: list of samples to keep for association analysis wes.assoc.variants.list: list of variants to keep for association analysis wes.sv.assoc.txt: single variant association analysis results wes.gene.ptv.variants.list.txt: list of protein truncating variants to use in gene-level analysis wes.gene.ptv.assoc.txt: results from gene-level tests of protein truncating variants wes.gene.nsstrict.variants.list.txt: list of NSstrict variants to use in gene-level analysis wes.gene.nsstrict.assoc.txt: results from gene-level tests of NSstrict variants wes.gene.nsbroad.variants.list.txt: list of NSbroad variants to use in gene-level analysis wes.gene.nsbroad.assoc.txt: results from gene-level tests of NSbroad variants wes.gene.ns.variants.list.txt: list of non synonymous variants to use in gene-level analysis wes.gene.ns.assoc.txt: results from gene-level tests of non synonymous variants
-