Article
Massively parallel functional dissection of mammalian enhancers in vivo.
Nature biotechnology - 26 Feb 2012
Patwardhan Rupali P, Hiatt Joseph B, Witten Daniela M, Kim Mee J, Smith Robin P, May Dalit, Lee Choli, Andrie Jennifer M, Lee Su-In, Cooper Gregory M, Ahituv Nadav, Pennacchio Len A, Shendure Jay
Abstract excerpt
The functional consequences of genetic variation in mammalian regulatory elements are poorly understood. We report the in vivo dissection of three mammalian enhancers at single-nucleotide resolution through a massively parallel reporter assay. For each enhancer, we synthesized a library of >100,000 mutant haplotypes with 2-3% divergence from the wild-type sequence. Each haplotype was linked to a unique sequence...
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