News: Training in Variant Analysis @NIH, USA, November 13 - 16, 2018
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9 months ago by
AABI120
USA
AABI120 wrote:

Training in Variant Analysis

November 13 - 16, 2018


Where?


National Institutes of Health

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.

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
  • Cloud image freely provided to participants
  • Training provided by active NIH researchers
  • Cookbook style bound manual for all exercises
  • Direct, after training support through exclusive forum membership
  • Continuing Educational Credits

For more information and registration, please visit the following page;

Information and Registration

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