Many approaches to determine whether a nucleotide change is a benign polymorphism or is associated with a genetic disease rely on sequence comparisons of a substantial number of individuals. This invention embodies a computational method that is able to predict whether a nucleotide change will have a deleterious effect. The claims of this invention relate to a computer program which has the novel feature in that it is designed to calculate the relative importance of a given nucleotide change. This program is unique in that it is capable of predicting the effect that a given nucleotide change would have on a particular sequence such as a known binding site. The method has been successfully applied to predicting the effects of changes at human splice junctions.
Further information is available at http://www.ccrnp.ncifcrf.gov/~toms/walker/index.html.
Applications:
Development Status:
Late stage
U.S. Patent 5,867,402 issued 02 Feb 1999 (HHS Reference No. E-080-1995/0-US-01)
Inventors:
Thomas D. Schneider (NCI) et al.
Licensees Sought:
Available for non-exclusive licensing.
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