Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors

MOTIVATION: Next Generation Sequencing technologies make it possible to detect rare genetic variants in individual patients. Currently, more than a dozen software and web services have been created to predict the pathogenicity of variants related with changing of amino acid residues. Despite conside...

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Detalles Bibliográficos
Autores principales: Zadorozhny, Anton, Smirnov, Anton, Filimonov, Dmitry, Lagunin, Alexey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435372/
https://www.ncbi.nlm.nih.gov/pubmed/37535750
http://dx.doi.org/10.1093/bioinformatics/btad484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435372/
https://www.ncbi.nlm.nih.gov/pubmed/37535750
http://dx.doi.org/10.1093/bioinformatics/btad484

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