CAUSEL: An epigenome and genome editing pipeline for establishing function of non-coding GWAS variants

@inproceedings{Spisk2015CAUSELAE,
  title={CAUSEL: An epigenome and genome editing pipeline for establishing function of non-coding GWAS variants},
  author={S{\'a}ndor Spis{\'a}k and Kate Lawrenson and Yanfang Fu and Istv{\'a}n Csabai and Rebecca T Cottman and Ji-Heui Seo and Christopher A. Haiman and Ying Han and Romina Lenci and Qiyuan Li and Vikt{\'o}ria Tisza and Zoltan Szallasi and Zachery T Herbert and Matthew S Chabot and Mark M Pomerantz and Norbert Solymosi and Simon A. Gayther and J. Keith Joung and Matthew L. Freedman},
  booktitle={Nature Medicine},
  year={2015}
}
The vast majority of disease-associated single-nucleotide polymorphisms (SNPs) mapped by genome-wide association studies (GWASs) are located in the non-protein-coding genome, but establishing the functional and mechanistic roles of these sequence variants has proven challenging. Here we describe a general pipeline in which candidate functional SNPs are first evaluated by fine mapping, epigenomic profiling, and epigenome editing, and then interrogated for causal function by using genome editing… CONTINUE READING
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