Article

Phenotype-specific information improves prediction of functional impact for noncoding variants

2016-10-26

Abstract excerpt

Functional characterization of the noncoding genome is essential for the biological understanding of gene regulation and disease. Here, we introduce the computational framework PINES (Phenotype-Informed Noncoding Element Scoring) which predicts the functional impact of noncoding variants by integrating epigenetic annotations in a phenotype-dependent manner. A unique feature of PINES is that analyses may be customi...

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Literature Corpus work: 90f153d1-5e7d-554d-9621-91ab106cfb9b
DOI: 10.1101/083642

Open publication

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