Section outline

  • PARTS I & II: NGS BIOINFORMATICS PIPELINE & QUALITY CONTROL (QC)

    09:00-10:15

    - Why are we doing this?

    - Overview of a bioinformatics analysis pipeline

    - QC throughout the NGS pipeline

    - Variant-level QC: common measures and thresholds for IonTorrent and Illumina

    10:15-10:30

    Coffee break

    10:30-11:30

    Introduction to OncoBenchTM and example case

    11:30-12:30

    Study case – Spotting data artifacts among true variants

    12:30-13:30

    Lunch break

    13:30-14:00

    Presentation/Discussion of the results


    PART III: ANNOTATION & INTERPRETATION

    14:00-15:00

    - Clinical significance: pathogenicity & actionability

    - Annotation using literature and other public databases: essentials and extras

    - From variant to gene, assessing functional impact

    15:00-15:15

    Coffee break

    15:15-16:15

    Study case – Annotation using literature and other public databases

    16:15-16:45

    Presentation/Discussion of the results

    16:45-17:00

    Wrap-up of the course and take-home messages