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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Detalles Bibliográficos
Autores principales: Karabachev, Alexander D., Martini, Dylan J., Hermel, David J., Solcz, Dana, Richardson, Marcy E., Pesaran, Tina, Sarkar, Indra Neil, Greenblatt, Marc S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402488/
https://www.ncbi.nlm.nih.gov/pubmed/32750050
http://dx.doi.org/10.1371/journal.pone.0233673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402488/
https://www.ncbi.nlm.nih.gov/pubmed/32750050
http://dx.doi.org/10.1371/journal.pone.0233673

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