• WHAT: Genetic Variation
  • WHEN: July 15th, 10am-12pm & 1-3:30pm
  • WHERE: Online; instructions upon registration
  • WHO: Ansuman Chattopahyay & Sri Chaparala
  • HOW: Register here

This is a 4½ 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 – 3:30 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.

Hands-On Follow Up:

Every Wednesday after a workshop, a follow up session (1 pm – 3 pm) will review the hands-on exercise questions distributed during the workshop. We will not be addressing questions on data analysis for personal research projects—researchers are encouraged to request a one-on-one consultation with MBIS for this type of discussion. Registration is not required for the hands-on follow up session. To attend, use the same Zoom link you receive upon registration for this workshop.

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:


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.

HSLS Summer 2020 MolBio Info Service Training Workshops schedule

Contact the HSLS Molecular Biology Information Service with any questions.

(Photo by Christopher Rusev on Unsplash)