Article

Variant pathogenic prediction by locus variability, the importance of the last picture of evolution

2020-11-08

Abstract excerpt

<h4>ABSTRACT</h4> Accurate pathogenic detection for single nucleotide variants (SNVs) is a key problem to perform variant ranking in whole exome sequencing studies. Several in silico tools have been developed to identify deleterious variants. Locus variability, computed as Shannon entropy from gnomAD/helixMTdb variant allele frequencies can be used as pathogenic variants predictor. In this study we evaluate the u...

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Literature Corpus work: 81ee5dce-8932-58e3-aa55-2c820efc020b
DOI: 10.1101/2020.11.06.371195

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