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  • News & Commentary - Message forums

    Education: Training in Variant Analysis @ NIH
    Submitted by Vijayaraj Nagarajan; posted on Monday, October 22, 2018

    November 13-16, 2018
    National Institutes of Health
    9000 Rockville Pike
    Building 60, Room 162
    Bethesda, MD 20892, USA


    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.


    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.

    Skill sets 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
    • Cloud-based Linux desktop
    • Training provided by active NIH researchers
    • Cookbook style bound manual for all exercises
    • Direct, after training support through exclusive forum membership
    • Continuing Education Credits

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