Scaling end-to-end Next Generation Sequencing solutions for clinical diagnostics in the cloud

Wednesday, 5 December, 2018

Next Generation Sequencing (NGS) has become an essential tool in clinical diagnostic laboratories, however this technology introduces many well described challenges around data processing, storage and analysis. In order to overcome these, Viapath’s 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 epidermal growth factor receptor  (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.
For further details on these innovative developments, please watch our webinar which discusses:

  • 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

The webinar is available to watch on demand at:
or on youtube at:
For further information, please contact:
Joo Wook Ahn PhD, Operations Lead, Developmental Disorders / Genome Informatics
joowook [dot] ahn [at] nhs [dot] net

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