• Queen Mary University of London
  • Barts Health NHS

Scientific data downloads

Scientific data downloads

Downloads

** 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.

Please log in or Register to download

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/

 

Please log in or Register to download

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.

Please log in or Register to download

This Excel (.xlsx) file is identical to Data File S1 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.

Annotation of loss of function variants as described in the Methods of the paper.

Calling of variants was deliberately conservative - high specificity at the cost of some sensitivity, see Methods of the paper.

Please log in or Register to download