Journal
FRONTIERS IN GENETICS
Volume 13, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.1010327
Keywords
in silico; pathogenicity prediction; bioinformatics; variant classification; next generating sequencing
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Molecular biology is a rapidly advancing science, but the interpretation of genetic variants remains a challenge. This article presents a review of international protocols that utilize in silico pathogenicity prediction tools and evaluates their efficiency.
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 in silico pathogenicity prediction tools involved in the variant prioritization/classification process used by some international protocols for variant analysis and studies evaluating their efficiency.
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