Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.

Abstract excerpt

Predicting the phenotypes of missense mutations uncovered by large-scale sequencing projects is an important goal in computational biology. High-confidence predictions can be an aid in focusing experimental and association studies on those mutations most likely to be associated with causative relationships between mutation and disease. As an aid in developing these methods further, we have derived a set of random...

Topics

• Algorithms
• Artificial Intelligence
• Computational Biology
• Cystathionine beta-Synthase
• Cysteine
• Databases, Protein
• Genetic Complementation Test
• Humans
• Lac Repressors
• Models, Statistical