Workshop Objective:
This is a 4 hour workshop. The morning session (10 am - 12 pm) provides a brief overview of human genetic variations with the introduction to various genetic variation databases (dbSNP, ClinVar, HGMD, COSMIC, TumorPortal, gnomAD, and RegulomeDb).
The afternoon session (1 pm - 3 pm) covers variant identification using the HSLS-licensed software CLC Genomics Workbench, how to use bioinformatics tools for functional analysis of mutations, and open-access web tools such as Ensembl Variant Effect Predictor and wANNOVAR.
Target Audience:
Experimental biologists seeking to identify genetic variations from Whole Exome or Whole Genome Sequencing data. The software covered in the workshop operates through a user-friendly, point-and-click graphical user interface, so neither programming experience nor familiarity with the command line interface is required.
Workshop Requirements:
Workshop Guide:
Attribution:
Please include the following statement in the acknowledgments section for all publications, posters, and presentations: Data analysis was performed using {name of software} software licensed through the Molecular Biology Information Service of the Health Sciences Library System, University of Pittsburgh.