AUTHOR=Garcia Felipe Antonio de Oliveira , Andrade Edilene Santos de , Palmero Edenir Inez 

TITLE=Insights on variant analysis in silico tools for pathogenicity prediction

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1010327

DOI=10.3389/fgene.2022.1010327

ISSN=1664-8021

ABSTRACT=<p>Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, but the interpretation of genetic variants requires expertise and computational power, therefore is still a challenge. Next-generation sequencing releases thousands of variants and to classify them, researchers propose protocols with several parameters. Here we present a review of several <italic>in silico</italic> pathogenicity prediction tools involved in the variant prioritization/classification process used by some international protocols for variant analysis and studies evaluating their efficiency.</p>