Dear CCR Scientist:
The Bioinformatics Training and Education Program (BTEP) is excited to present
a workshop entitled, “Variant Analysis in WGS and WES” as part of our “Variant
Analysis October 2018 mini-series”.
Morning session
“Introduction to variant analysis”
1. Experimental Design Considerations in Variant Analysis
* Germline vs Somatic
* WGS vs WES
* Sample sizes and statistical power
2. WGS/WES Pipelines at NIH
* Pipeline performance
* Using Pipeliner for internal and external data
3. Variant QC, Annotation and Downstream Analysis
* Variant QC and data correction
* Variant annotation and analysis tools
4. Structural variation and multi-omic integration
Date: October 12, 2018
Time: 9 AM – 11 AM
Location: NIH, Bldg 37, Rm 2041/2107
Presenter(s): Justin Lack, Ph.D., Bioinformatics Manager/ Lead, NIAID
Collaborative Bioinformatics Resource (NCBR)
Registration link:
https://btep.ccr.cancer.gov/classes/btep-variant-ana…wes-introduction/<https://btep.ccr.cancer.gov/classes/btep-variant-analysis-wgs-wes-introduction/>
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Afternoon session
“Variant analysis with Ingenuity Variant Analysis (IVA) software”
Date: October 12, 2018
Time: 1 PM – 3 PM
Location: NIH, Bldg 37, Rm 4041/4107
Presenter(s): Eric Seiser, Ph.D. and Ted King, QIAGEN
QIAGEN’s Ingenuity Variant Analysis (IVA) combines analytical tools and
integrated content to help you rapidly identify and prioritize variants by
drilling down to a small, targeted subset of compelling variants based on
published biological evidence and your knowledge of disease biology. IVA allows
you to interrogate variants from multiple biological perspectives, explore
different biological hypotheses, and identify the most promising variants for
follow-up. This seminar will focus on:
-Uploading Data
-Running Analyses
-Utilizing Variant Filtering
-Exploring Results and Exporting Data
Registration link:
https://btep.ccr.cancer.gov/classes/btep-variant-ana…variant-analysis/<https://btep.ccr.cancer.gov/classes/btep-variant-analysis-wgs-wes-qiagen-iva-ingenuity-variant-analysis/>
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Visit the BTEP website:
https://btep.ccr.cancer.gov<https://btep.ccr.cancer.gov/>
Questions/Comments and/or suggestions may be directed to:
[email protected]<mailto:[email protected]>
Dr. Amy Stonelake 240-760-6314
Dr. Peter FitzGerald 240-760-7181
Amy Stonelake, Ph.D. [Contractor]
Scientific Manager, Bioinformatics Training & Education Program (BTEP)
Leidos Biomedical Research
Frederick National Laboratory for Cancer Research
Email: [email protected]<mailto:[email protected]>
Phone: (240) 760-6314
Location: NIH, Bldg 37, Rm 3035
