Frequency of exome-chip variants in samples from UK

Version 1.0, 19th November 2013

 

WeÕve compiled the frequencies of variants genotyped on Illumina HumanExome-12v1_A Beadchip (247,870 markers) in 55,726 European individuals from UK, provided in the enclosed file.

 

Download the latest copy of the data here.

 

Genotype calling at each centre was carried out using Illumina's GenTrain clustering algorithm in GenomeStudio and zCall was run as a post-processing step.

 

This information was generated using summary statistics shared by UK exome chip consortium members in December 2012. For calculating overall frequencies, we have considered only quality control passed variants from each cohort/study.

 

Content Contributors

 

Contributor

N

Contact

1958 Birth Cohort

5963 controls

Panos Deloukas

BRIGHT

1364 cases

Patricia Munroe

BHF- FHS

2991 cases

Nilesh Samani

CAMCANCER 

3598 controls and 4348 cases of various cancers

Deborah Thompson

Cambridge BioResource

2646 controls

Panos Deloukas

CLOZUK

1937 schizophrenia cases

Michael O'Donovan

Dunlop                                     

1843 cases

Richard Houlston

EPIC CAD Norfolk

1396 cases

Nick Wareham/Panos Deloukas

EPIC T2D Norfolk

681 cases

Nick Wareham

Exeter

1415 T2D cases and 1538 controls

Tim Frayling

Fenland                             

1028 controls

Nick Wareham

GoDARTS CAD

1424 cases

Colin Palmer/Panos Deloukas

GoDARTS T2D

1715 T2D cases and 1719 controls

Colin Palmer

GRAPHIC                                        

969 controls

Nilesh Samani

Houlston

1209 cases

Richard Houlston

Moorfields

1953 cases

Gerome Breen

Oxford BioBank

4522 controls

Fredrik Karpe

TwinsUK

1185 controls

Timothy Spector

UK COPD exome chip consortium

3735 COPD cases and 976 controls

Martin Tobin

UK MS

1661 multiple sclerosis cases

Stephen Sawcer

WTCCC/UKT2D

3910 T2D cases

Mark McCarthy

 

 

Please note that some of this data will be available from EGA controlled data access in due course.

 

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File header description:

 

The enclosed file FrequencyVariantsUK.ExomechipConsortium.Nov2013.txt is a tab-separated text file with three columns:

 

variantID: Illumina SNP ID

N: Number of samples contributing to the counts    

MAF: Minor allele frequency

 

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For any queries please contact:

 

Mark McCarthy <mark.mccarthy@drl.ox.ac.uk>

Panos Deloukas <p.deloukas@qmul.ac.uk>

Anubha Mahajan <anubha@well.ox.ac.uk>

Neil Robertson <neil.robertson@well.ox.ac.uk>

 

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Please acknowledge UK exome chip consortium if you use this information in your research.

 

AM20131119