Monthly Archives: April 2014

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Author post: VSEAMS: A pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes

Haldane’s Sieve: Olly Burren writes about our latest preprint on arXiv, a method for relating GWAS summary statistics to functionally defined gene sets which doesn’t require access to raw genotyping data.

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Author post: A hybrid SNP/qPCR approach for large scale association testing in KIR

SNP arrays are a great way of cheaply genotyping a large number of individuals for genome-wide association studies.

This is what you expect a typical SNP to look like:

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There are three clearly distinguishable clusters representing the three possible genotypes at that locus (TT, TC and CC).

But some SNPs look like this:

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What is going on here?

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