Announcement: Genomic Variant Annotation and Prioritization with ANNOVAR and wANNOVAR

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January 26, 2016, 09:00 to: 12:00
Team: Events, Training & News

CHIMb.ca
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Announcement: Genomic Variant Annotation and Prioritization with ANNOVAR and wANNOVAR

Team: Events, Training & News

January 26, 2016, 09:00 to: 12:00

Description


January 26, 2016 | 9:00am-12:00pm | Location:TBD

Recent developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data, democratizing the ability to compile large amounts of genetic variations in individual laboratories. However, after variant calls are generated, researchers need to understand the functional content within the data and prioritize all variants for functional follow up on selected variants. To address these challenges, we previously developed a tool called ANNOVAR (ANNOtate VARiation), to rapidly annotate genetic variants and predict their functionalities. In the workshop, I will illustrate a few protocols to use the ANNOVAR software to facilitate fast and easy variant annotations, including gene-based, region-based and filter-based annotations on a VCF file generated on human genome. I will give examples on how to use a few software tools to quickly generate variants and identify candidate genes for human diseases, using whole genome or exome sequencing data. Finally, I will illustrate how to use a user-friendly and easily accessible web server called wANNOVAR, together with detailed phenotype information, to prioritize candidate genes for Mendelian disease.

Learning Objectives:

1. Understand how functional annotation works in the context of human genome/exome sequencing
2. Understand what measures and prediction approaches are typically used for variant prioritization in exome sequencing studies
3. Use ANNOVAR command line tools to annotate a file with genomic variants and examine the annotations in a spreadsheet program.
4. Use wANNOVAR to prioritize and identify candidate genes in a patient with Mendelian diseases

Agenda:

9-10:30am - Lecture
10:30-11am - Break
11-12pm - Example demo using ANNOVAR and wANNOVAR. Participants are suggested to bring their own computers if they want to practice it.

Registration:

The workshop is free, but a registration is required.
Participants who wish to attend the workshop should send his/her name, affiliation, title (student, research
fellow, faculty, clinician or other) and email to Dr. Pingzhao Hu: pingzhao.hu@umanitoba.ca

About the Instructor:

Dr. Kai Wang is an Assistant Professor at the University of Southern California, Keck School of Medicine. His research focused on human genetics and genomics, especially methods development and application of next-generation DNA and RNA sequencing techniques. Dr. Wang had a Bachelor’s degree at Peking University in China, a master’s degree at Mayo Clinic and a Ph.D. at the University of Washington. He had postdoctoral training at the University of Pennsylvania and Children’s Hospital of Philadelphia, working on genomic analysis of multiple human diseases. Dr. Wang has published over 100 scientific manuscripts, with over 10,000 citations. He developed PennCNV, one of the most widely used software tools to detect copy number variations from high-density SNP arrays, as well as ANNOVAR, one of the most widely used software tools for functional annotation of genetic variants from high-throughput sequencing data.

 

Click here to view the poster for this event.