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

ABSTRACT: 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 for association with the development of hereditary diseases. Currently, the primary analysis and identification of pathogenic variations is carried out using bioinformatic tools. Although extensive efforts have been made in the computational approach to variant interpretation, there is currently no generally accepted pathogenicity predictor. In this study, we used the sequence-structure-property relationships (SSPR) approach, based on the representation of protein fragments by molecular structur

SUBMITTER: Zadorozhny AD 

PROVIDER: S-EPMC9917004 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature