Variant Detection & Analysis: CLC Genomics, Ingenuity Variant Analysis, & more
Assistant Director for Molecular Biology Information Services
This hands-on workshop focuses on human genetic variations and cancer mutations. It covers identification of variants using CLC Genomics Workbench software and introduces variation databases (dbSNP, ClinVar, OMIM, DGV, PheGenI, HGMD, Correlation Engine, COSMIC, Broad Tumor Portal, ExAc Browser, RegulomeDb). The workshop will also teach how to use bioinformatics tools for functional analysis of mutations and covers web tools such as EBI Variant Effect Predictor, Ingenuity Variant Analysis, and PredictSNP2.