SEP 18, 2018 7:00 AM GMT

Scaling end-to-end NGS solutions for clinical diagnostics in the cloud

Sponsored by: DNAnexus, QIAGEN
Speakers
  • Clinical Bioinformatician at Viapath Genetics Laboratory
    Biography
      Joo Wook Ahn leads the Genome Informatics group at the Guy's and St Thomas' Genomic Medicine Centre and is responsible for delivery of clinical bioinformatics within the Viapath Genetics Laboratory.
    • Clinical Bioinformatician at Viapath Genetics Laboratory
      Biography
        Andy is a clinical bioinformatician at Viapath Genomics Laboratory, Guy's Hospital, London UK. He has 8 years experience working in diagnostic genomics laboratories. As part of the genome informatics team, he develops and maintains diagnostic Next Generation Sequencing pipelines, explores clinical applications of new technologies and analyses results from the 100,000 Genomes Project.
      • Clinical Bioinformatician at Viapath Genetics Laboratory
        Biography
          Matt is a registered Clinical Scientist and joined the WES pilot project at Viapath in 2015, where he facilitated the transfer of the pilot into a successful WES clinical service that now reports >350 WES cases per year. He has a special interest in variant assessment and computational tools, and is on an ongoing quest to find the perfect assessment application. Matt was trained at Clinical Genetics in Uppsala, Sweden, where he worked as a Clinical Scientist for seven years before moving to London.
        • Science Lead, Europe at DNAnexus
          Biography
            As Science Lead, Alessandro is the first point of contact for DNAnexus' growing community of EU users and partners from the pharma, clinical diagnostics & healthcare segments. Alessandro is passionate about creating Bioinformatics solutions that are truly valuable, useful and reproducible, for the benefit of the EU scientific community. As a scientist, Alessandro's career spans over ten years between industry and academia, in the fields of oncology and microbial genomics; he is specialised in cloud solutions and next-generation sequencing.

          Abstract
          DATE:  September 18, 2018
          TIME:  7:00am PDT, 10:00am EDT, 2:00pm GMT
           

          Next Generation Sequencing has become an essential tool in clinical diagnostic laboratories, however this technology introduces many well described challenges around data processing, storage and analysis. The Viapath Genetics Laboratories have implemented an automated, scalable and cost-effective bioinformatics pipeline utilising the power of cloud computing.
           
          The DNAnexus Platform is used to run bioinformatics workflows specific to diagnostic test types such as exomes for paediatric developmental disorders and an amplicon panel for assessing EGFR in lung cancer, all of which are ISO15189-accredited. These automated and scalable workflows perform secondary bioinformatics analysis and then pass results directly into QIAGEN Ingenuity Variant Analysis (IVA) for tertiary analysis. IVA takes advantage of the Qiagen clinical knowledge base to enable systematic filtering, prioritisation and analysis of variants, including automated ACMG classification.
           
          The DNAnexus Platform is also used to manage data which is archived for long term storage using Amazon Glacier; this provides a low-cost and resilient solution.
           
          In this webinar we will discuss:

          • Advantages of DNAnexus and IVA platforms
          • The development process for building DNAnexus apps and workflows
          • How pipelines can be automated from sequencer to analysis
          • How these tools have helped ViaPath scale with changing service requirements
          • Interpretation of exome variants using IVA
          • The dual strategy of clinically-defined gene panels and phenotype-driven (gene-agnostic) variant prioritisation
          • Clinical case studies

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