Original paper
Ranking of non-coding pathogenic variants and putative essential regions of the human genome
Abstract
A gene is considered essential if loss of function results in loss of viability, fitness or in disease. This concept is well established for coding genes; however, non-coding regions are thought less likely to be determinants of critical functions. Here we train a machine learning model using functional, mutational and structural features, including new genome essentiality metrics, 3D genome organization and enhancer reporter data to identify...
Paper Details
Title
Ranking of non-coding pathogenic variants and putative essential regions of the human genome
Published Date
Nov 20, 2019
Journal
Volume
10
Issue
1
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Notes
History