Article

Saturation mutagenesis of disease-associated regulatory elements

2018-12-23

Abstract excerpt

The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare diseases, fall in noncoding regions of the genome. Although catalogs of noncoding regulatory elements are steadily improving, we have a limited understanding of the functional effects of mutations within them. Here, we performed saturation mutagenesis in conjunction with massively parallel...

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Literature Corpus work: 512ee922-cd7f-5092-b909-9453d0d91091
DOI: 10.1101/505362

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