Article
Optimized high-throughput screening of non-coding variants identified from genome-wide association studies.
Nucleic acids research - 22 Feb 2023
Morova Tunc, Ding Yi, Huang Chia-Chi F, Sar Funda, Schwarz Tommer, Giambartolomei Claudia, Baca Sylvan C, Grishin Dennis, Hach Faraz, Gusev Alexander, Freedman Matthew L, Pasaniuc Bogdan, Lack Nathan A
Abstract excerpt
The vast majority of disease-associated single nucleotide polymorphisms (SNP) identified from genome-wide association studies (GWAS) are localized in non-coding regions. A significant fraction of these variants impact transcription factors binding to enhancer elements and alter gene expression. To functionally interrogate the activity of such variants we developed snpSTARRseq, a high-throughput experimental...
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