Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

Computational algorithms are often used to assess pathogenicity of Variants of Uncertain Significance (VUS) that are found in disease-associated genes. Most computational methods include analysis of protein multiple sequence alignments (PMSA), assessing interspecies variation. Careful validation of...

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Bibliographic Details
Main Authors: Alexander D Karabachev, Dylan J Martini, David J Hermel, Dana Solcz, Marcy E Richardson, Tina Pesaran, Indra Neil Sarkar, Marc S Greenblatt
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0233673