ncibtep@nih.gov

Bioinformatics Training and Education Program

BTEP: Variant Analysis Using Genomatix GeneGrid Oct 26, 2018

Variant Analysis using Genomatix GeneGrid

Susan M. Dombrowski, PhD and Peter Grant, Genomatix, Inc.

*Please bring a laptop with Flash installed for the hands-on portion of this demo.

**This class will be held in NIH Bldg. 37, Rm 6041/6107 from 1 – 4 PM

Genomatix GeneGrid is a variant annotation and analysis tool that integrates both public and proprietary data sources for examining the biological effects of single nucleotide polymorphisms (SNPs) and/or insertions-deletions (indels) in heritable or non-heritable (epigenetic) human disease. Using GeneGrid, one can quickly perform trio analysis, case-control studies, identify somatic SNPs and visualize and dynamically interact with these results in the context of other integrated Genomatix data content including: genomic annotation, biological pathways, and the supporting biomedical literature. GeneGrid also includes the ability to generate variant report summaries and provides link-outs to genetic testing providers. For an overview of the GeneGrid technology we invite you to visit: http://www.genomatix.de/solutions/genegrid.html

The training course will consist of a GeneGrid overview lecture and instructor-led demonstration of how to import VCF and BAM files into the GeneGrid platform, followed by a hands-on training demonstrating the use of GeneGrid for variant annotation and analysis. At the end of the course, students will have learned how to:

*import VCF and BAM files into the GeneGrid platform;

*view VCF sample statistics and the associated metadata;

*run a sample comparison;

*annotate and filter variants;

*view annotated variant data in the Genomatix Genome Browser;

*use the results management features;

*apply the mastery of GeneGrid to their own data

Date: October 28, 2018

Time: 1 PM – 4 PM

Location: NIH Bldg 37, Rm 6041/6107