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Article

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2016

Castellana Stefano, Fusilli Caterina, Mazza Tommaso

Abstract excerpt

Next-generation sequencing has provided extraordinary opportunities to investigate the massive human genetic variability. It helped identifying several kinds of genomic mismatches from the wild-type reference genome sequences and to explain the onset of several pathogenic phenotypes and diseases susceptibility. In this context, distinguishing pathogenic from functionally neutral amino acid changes turns out to be...

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PMID: 27115646
DOI: 10.1007/978-1-4939-3572-7_22

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