Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.

ABSTRACT: Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a potential therapeutic modality for a disease-causing variant such as inherited retinal disease (IRD). Here, we apply structure-based network analysis (SBNA), which has been successfully utilized to identify variant-constrained amino acid residues in viral proteins, to identify residues that may cause IRD if subject to missense mutation. SBNA is based entirely on structural first principles and is not fit to specific outcome data, which makes it distinct from other contemporary missense prediction tools. In 4 well-studied human disease-associated proteins (B

SUBMITTER: Hauser BM 

PROVIDER: S-EPMC11130145 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature