Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

ABSTRACT: Accurate prediction of the impact of genomic variation on phenotype is a major goal of computational biology and an important contributor to personalized medicine. Computational predictions can lead to a better understanding of the mechanisms underlying genetic diseases, including cancer, but their adoption requires thorough and unbiased assessment. Cystathionine-beta-synthase (CBS) is an enzyme that catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine, and in which variations are associated with human hyperhomocysteinemia and homocystinuria. We have created a computational challenge under the CAGI framework to evaluate how well different methods can predict the phenotypic effect(s) of CBS single amino acid substitutions using a blinded experimental

SUBMITTER: Kasak L 

PROVIDER: S-EPMC7325732 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature