Article
In silico analysis of missense substitutions using sequence-alignment based methods.
Human mutation - 1 Nov 2008
Tavtigian Sean V, Greenblatt Marc S, Lesueur Fabienne, Byrnes Graham B
Abstract excerpt
Genetic testing for mutations in high-risk cancer susceptibility genes often reveals missense substitutions that are not easily classified as pathogenic or neutral. Among the methods that can help in their classification are computational analyses. Predictions of pathogenic vs. neutral, or the probability that a variant is pathogenic, can be made based on: 1) inferences from evolutionary conservation using...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.