Events Calendar

Genetic Variation

This is a 4-hour workshop. The morning session (10am - 12pm) provides a brief overview of human genetic variations and cancer mutations. The afternoon session (1pm - 3pm) focuses on hands-on identification of variants using HSLS-licensed CLC Genomics Workbench and introduces various genetic variation databases (dbSNP, ClinVar, OMIM, DGV, PheGenI, HGMD, Correlation Engine, COSMIC, Broad Tumor Portal, gnomAD Browser, RegulomeDb). The workshop also teaches how to use bioinformatics tools for functional analysis of mutations and covers web tools such as EBI Variant Effect Predictor and PredictSNP2.

Registration is required. Please register here.


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 command line interface is required.

Workshop Requirements:

Register for CLC Genomics Workbench

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.

Wednesday, April 8 at 10:00 a.m. to 3:00 p.m.

Falk Library of the Health Sciences, Classroom 2
200 Scaife Hall, Pittsburgh, PA 15261