SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening

SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening

Next Generation Sequencing (NGS) technologies are rapidly entering clinical practice. A promising area for their use lies in the field of newborn screening. The mass screening of newborns using NGS technology leads to the discovery of a large number of new missense variants that need to be assessed...

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Bibliographic Details
Main Authors: Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
bioinformatics
human genetic variation
single amino acid variant (SAV)
variant effect prediction
newborn screening
SAR
Online Access:https://www.mdpi.com/1422-0067/24/3/2463

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