BTEP, Frederick: Introduction to Variant Analysis in WGS and WES seminar by Dr. Justin Lack, Nov. 14, 2018

Nov. 14, 2018

9 – 11 AM

NCI at Frederick, Ft. Detrick, Bldg 549, Auditorium

Presenter: Justin Lack, Ph.D., Bioinformatics Manager/ Lead, NIAID Collaborative Bioinformatics Resource (NCBR)

(This is a repeat of the seminar that was given on the NIH Campus, Oct. 12)

1. Experimental Design Considerations in Variant Analysis
   1. Germline vs Somatic
   2. WGS vs WES
   3. Sample sizes and statistical power
2. WGS/WES Pipelines at NIH
   1. Pipeline performance
   2. Using Pipeliner for internal and external data
3. Variant QC, Annotation and Downstream Analysis
   1. Variant QC and data correction
   2. Variant annotation and analysis tools
4. Structural variation and multi-omic integration