This class describes how to access information about genes and their variants associated with diseases and the impact of variants on drug response and dosing guidelines. The class also provides an introduction to determination of the impact of the variants on function, pathogenicity or deleteriousness. Several publicly available resources will be covered.
Topics to be covered:
1. Types of mutations
2. Nomenclature for the description of sequence variants by the Human Genome Variation Society (HGVS)
3. Introduction to resources, such as ClinVar, Clinical Genomic Database (CGD), dbSNP, Online Mendelian Inheritance in Man (OMIM), Exome Variant Server (EVS), Genetic Testing Registry (GTR), Phenotype-Genotype Integrator (PheGenI) and 1000 Genomes, to access information about genes and their variants associated with diseases
4. Introduction to resources, such as Clinical Pharmacogenetics Implementation Consortium (CPIC) and Pharmacogenomics Knowledgebase (PhramGKB), to obtain information about the impact of variants on drug response and dosing guidelines
5. Introduction to resources, such as Combined Annotation Dependent Depletion (CADD), Variant Effect Predictor, Variant Reporter, wANNOVAR and Site Directed Mutator (SDM), for functional, pathogenicity or deleteriousness annotation of variants