Structure-based network analysis predicts mutations associated with inherited retinal disease.

ABSTRACT: With continued advances in gene sequencing technologies comes the need to develop better tools to understand which mutations cause disease. Here we validate structure-based network analysis (SBNA)^1,2 in well-studied human proteins and report results of using SBNA to identify critical amino acids that may cause retinal disease if subject to missense mutation. We computed SBNA scores for genes with high-quality structural data, starting with validating the method using 4 well-studied human disease-associated proteins. We then analyzed 47 inherited retinal disease (IRD) genes. We compared SBNA scores to phenotype data from the ClinVar database and found a significant difference between benign and pathogenic mutations with respect to network score. Finally, we applied this approach

SUBMITTER: Hauser BM 

PROVIDER: S-EPMC10350150 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature