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Curated Multiple Sequence Alignment for the Adenomatous Polyposis Coli ( <i>APC</i> ) Gene and Accuracy of <i>In Silico</i> Pathogenicity Predictions

2019-08-02

Abstract excerpt

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 PMSA-based methods has been done for relatively few genes, partially because creation of curated PMSAs is labor-inten...

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Literature Corpus work
a6c1a3bd-179b-55b1-9a40-25506d28b1a3
DOI
10.1101/723320
Open publication

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Curated Multiple Sequence Alignment for the Adenomatous Polyposis Coli ( <i>APC</i> ) Gene and Accuracy of <i>In Silico</i> Pathogenicity PredictionsDOI 10.1101/723320
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