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Chunk #1 — Introduction

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Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.
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In this context, a natural question to ask is whether two independent association signals at the same locus, typically generated by two GWAS studies, are consistent with a shared causal variant. If the answer is positive, we refer to this situation as colocalised traits, and the probability that both traits share a causal mechanism is greatly increased. A typical example involves an eQTL study and a disease association result, which points to the causal gene and the tissue in which the effect is mediated [5]–[7]. In fact, looking for overlaps between complex trait-associated variants and eQTL variants has been successfully used as evidence of a common causal molecular mechanism (e.g., [5], [8]). The same questions can also be considered between pairs of eQTLs [9], [10], or pairs of diseases [11].