Article

Systematic identification of human SNPs affecting regulatory element activity

2018-11-04

Abstract excerpt

Most of the millions of single-nucleotide polymorphisms (SNPs) in the human genome are non-coding, and many overlap with putative regulatory elements. Genome-wide association studies have linked many of these SNPs to human traits or to gene expression levels, but rarely with sufficient resolution to identify the causal SNPs. Functional screens based on reporter assays have previously been of insufficient throughpu...

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Literature Corpus work: e87a1cdd-ef80-59b6-a4a3-97e0aafa43fe
DOI: 10.1101/460402

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