NOVEL PHARMACOGENE SINGLE NUCLEOTIDE POLYMORPHISMS AND METHODS OF DETECTING SAME

摘要

The present invention provides pharmacogene polymorphisms and their use in predicting therapeutic effectiveness. The present invention also provides methods comprising targeted analysis of selected pharmacogenes in thousands of compiled whole human genome sequences for identifying polymorphic sequences associated with drug response are described, The methods also provide confirmation and validation of these pharmacogene polymorphisms, based on concordance between different sequencing technologies, and statistical error-checking. Imputation of the deleterious consequences of novel variants is predicted by bioinformatics analysis.