Training in Variant Analysis
June 2-5, 2020
Where?
National Institutes of Health(ONLINE)
9000 Rockville Pike
Building 60, Room 162
Bethesda, MD 20892, USA
Objectives
Participants will use popular open source tools and techniques necessary for analysing variants starting from raw data quality control. Apart from the regular analysis like alignment, variant calling and annotation, this training will walk through participants in several advanced variant analysis methods and techniques.
Background
Next generation sequencing technologies have made genotyping a day to day research and diagnostic tool. Genotyping has come all the way from bench-to-bedside. Genetic variants are being used in personalized medicine to identify susceptibility genes, common disease variants and mutations relevant for diagnosis and therapy.
Simultaneous access to two screens is highly recommended for adequate learning experience. Examples include two laptops, one computer with two screens, one laptop and one tablet, etc.
Hands-on Skills/Tools Taught
- NGS Basics, experimental design, data format
- Data quality control, preprocessing and alignment
- Germline variant calling
- Somatic variant calling
- Variant score recalibration and filtering
- Variant calling best practices
- Indels, structural and copy-number variation
- Cohort and population scale analysis
- Recombination, linkage, LOH, haplotype, allelic imbalance
- Variant annotation and association analysis
- Co-variation, causal variation, network analysis
Highlights
- Cloud-based Linux desktop
- Training provided by active NIH researchers
- Cookbook style bound manual for all exercises
- Continuing Education Credits
For more information and registration, please visit the following page: Information and Registration
