• Queen Mary University of London
  • Barts Health NHS
  • Bradford NHS

Scientific data downloads

Scientific data downloads

Downloads

The updated files below contain lists of predicted loss of function (LoF) and functional (missense or inframe indels) variants in the current Genes & Health callset, released in November 2017.

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PRELIMINARY DATA - USE WITH CAUTION

These files contain exome sequencing data on loss of function variants from 3782 East London Genes & Health volunteers (Bangladeshi and Pakistani, with self-stated related parents), 2624 Bradford volunteers (Pakistani, mostly self-stated or DNA autozygous individuals), 1060 Birmingham volunteers (Pakistani, unselected). Bradford and Birmingham samples are as described in Narasimhan et al Science 2016, with additional Bradford samples.

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** UPDATED 11 Apr 2017 - previous file was missing some chr1 variants **

 

This compressed file is from sequencing of 1687 self-stated parentally-related individuals living in East London.

All volunteers are of (British-) Bangladeshi and (British-) Pakistani ethnic origin.

Loss of function variant sites (exome capture, Agilent reagent) as called by the consensus of samtools and GATK, and genome annotation by LOFTEE.

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We will also make full processed data available via the European Genome-phenome Archive, subject to Data Access Agreement, within 6 months of data generation.

This is a condition of Wellcome Trust funding.

Website: https://www.ebi.ac.uk/ega/

 

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This compressed .vcf file is from the data described in our Science 2016 paper "Health and population effects of rare gene knockouts in adult humans with related parents".

Exome sequencing of 3222 British Pakistani adults.

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