Improving the clinical interpretation of missense variants in X linked genes using structural analysis.

ABSTRACT:

Background

Improving the clinical interpretation of missense variants can increase the diagnostic yield of genomic testing and lead to personalised management strategies. Currently, due to the imprecision of bioinformatic tools that aim to predict variant pathogenicity, their role in clinical guidelines remains limited. There is a clear need for more accurate prediction algorithms and this study aims to improve performance by harnessing structural biology insights. The focus of this work is missense variants in a subset of genes associated with X linked disorders.

Methods

We have developed a protein-specific variant interpreter (ProSper) that combines genetic and protein structural data. This algorithm predicts missense variant pathogenicity by applying

SUBMITTER: Sallah SR 

PROVIDER: S-EPMC8961765 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature