| 研究実績の概要 |
To identify likely causal variants for autism spectrum disorder in the OXTR gene, we first conducted the imputation analysis based on our previous association study. We further applied a Bayesian refinement approach to define the subset of SNPs with posterior probability of 95% likely to contain the causal disease-associated SNPs. These credible SNP sets were then annotated by using the publicly available databases of regulatory elements including ENCODE, Epigenome RoadMap, FANTOM5 and GTEx.
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