Assessing the impact of low frequency coding variants on disease risk using the Exomechip

Study ID Alternative Stable ID Type
EGAS00001000584 Other

Study Description

Following several rounds of Genome Wide Association (GWA) scans and subsequent meta-analyses of results multiple risk loci have been identified for many common diseases. However, in most instances the implicated common variants identified so far explain only a modest fraction of the genetic risk. In parallel to our efforts to identify the causative variants in the known loci it is necessary to assess the full spectrum of sequence variants for disease risk and in particular low frequency and rare variants that have not been tested in a comprehensive way so far. To this end an international effort by investigators who have performed whole exome sequencing in circa 12,000 individuals have assembled a set of ~250,000 exonic variants of low frequency – defined as seen in at least two studies and a minimum of three individuals (non-sysnonymous) or two individuals for SNPs altering splice sites / stop codons. The SNP content from the exome studies was complemented with additional interesting SNP sets totalling 25,000 markers (GWA tag SNPs, grid of common variants, HLA, Mitochondrial, ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
WTCCC2 samples from 1958 British Birth Cohort
Illumina HumanExome-12v1_A-GenCall, zCall 12241

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