Article
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.
Human mutation - 1 Mar 2010
Mort Matthew, Evani Uday S, Krishnan Vidhya G, Kamati Kishore K, Baenziger Peter H, Bagchi Angshuman, Peters Brandon J, Sathyesh Rakesh, Li Biao, Sun Yanan, Xue Bin, Shah Nigam H, Kann Maricel G, Cooper David N, Radivojac Predrag, Mooney Sean D
Abstract excerpt
An important challenge in translational bioinformatics is to understand how genetic variation gives rise to molecular changes at the protein level that can precipitate both monogenic and complex disease. To this end, we compiled datasets of human disease-associated amino acid substitutions (AAS) in the contexts of inherited monogenic disease, complex disease, functional polymorphisms with no known disease...
Topics
- Alleles
- Amino Acids
- Computational Biology
- Gene Expression Profiling
- Gene Expression Regulation
- Gene Expression Regulation, Neoplastic
- Genetic Variation
- Glycosylation
- Humans