Ranking of non-coding pathogenic variants and putative essential regions of the human genome
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DOI: 10.1038/s41467-019-13212-3
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… read more here.
Keywords: ranking non; coding pathogenic; pathogenic variants; variants non ... See more keywords