Article
CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants.
Nature medicine - 1 Nov 2015
Spisák Sándor, Lawrenson Kate, Fu Yanfang, Csabai István, Cottman Rebecca T, Seo Ji-Heui, Haiman Christopher, Han Ying, Lenci Romina, Li Qiyuan, Tisza Viktória, Szállási Zoltán, Herbert Zachery T, Chabot Matthew, Pomerantz Mark, Solymosi Norbert, Gayther Simon A, Joung J Keith, Freedman Matthew L
Abstract excerpt
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...
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