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.
Annotation of all variants (exome capture, Agilent reagent) as described in the Methods of the paper. So not just loss of function genotype sites, but all variant sites from the exome sequencing reported in the paper.
Calling of variants was deliberately conservative - high specificity at the cost of some sensitivity, see Methods of the paper.
This file was not made available at the time of the Science 2016 paper publication.
Click to download: Data File_filteredSiteList.vcf.gz (the link is via Dropbox as the file is currently too large for this website).
