Article
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Human mutation - 1 Sept 2019
Kasak Laura, Bakolitsa Constantina, Hu Zhiqiang, Yu Changhua, Rine Jasper, Dimster-Denk Dago F, Pandey Gaurav, De Baets Greet, Bromberg Yana, Cao Chen, Capriotti Emidio, Casadio Rita, Van Durme Joost, Giollo Manuel, Karchin Rachel, Katsonis Panagiotis, Leonardi Emanuela, Lichtarge Olivier, Martelli Pier Luigi, Masica David, Mooney Sean D, Olatubosun Ayodeji, Radivojac Predrag, Rousseau Frederic, Pal Lipika R, Savojardo Castrense, Schymkowitz Joost, Thusberg Janita, Tosatto Silvio C E, Vihinen Mauno, Väliaho Jouni, Repo Susanna, Moult John, Brenner Steven E, Friedberg Iddo
Abstract excerpt
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...
Topics
- Amino Acid Substitution
- Computational Biology
- Cystathionine
- Cystathionine beta-Synthase
- Homocysteine
- Humans
- Phenotype