Article

Identification and characterization of constrained non-exonic bases lacking predictive epigenomic and transcription factor binding annotations

2019-08-02

Abstract excerpt

Annotations of evolutionarily constraint provide important information for variant prioritization. Genome-wide maps of epigenomic marks and transcription factor binding provide complementary information for interpreting a subset of such prioritized variants. Here we developed the Constrained Non-Exonic Predictor (CNEP) to quantify the evidence of each base in the human genome being in a constrained non-exonic elem...

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Literature Corpus work: 13a2a63d-d82c-57fa-87e5-e8e59e46edf9
DOI: 10.1101/722876

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