Next-Generation Sequencing & Bioinformatics: Building Clinical Applications

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Feb 23, 2017
from 05:00 PM to 06:00 PM


Lecture Theatre A, Department of Physics and Astronomy

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0116 252 3575

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In recent years, advances in human genome understanding, laboratory and analysis techniques have made possible the transition of a number of novel medical applications from the research to the clinical laboratory; in many cases, these new methods offer improved accuracy or reduced risks to the patient compared with existing test procedures. A significant enabler has been the large-scale improvements in throughput, practicality and usability resulting from the commercial availability of so-called Next Generation Sequencing (NGS) techniques. Closely coupled with this is the development and refinement of bioinformatics analysis methods capable of working with the large volume of sequencing data that these instruments generate, to produce results in a timely manner.

In the context of developing NGS-based clinical applications, this talk will consider:

  • Sequencing techniques: A brief history; the growth of NGS.
  • Focus on an NGS technology: semiconductor-based sequencing.
  • Clinical applications: The elements of a complete trisomy 13, 18 and 21 test system.
    • What is trisomy? Cell-free fetal DNA and The Bioinformatics Pipeline.
    • Medical-class analysis software: Why? What is involved?
  • Further applications: Oncology and ctDNA, disease monitoring, pathology.

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Dr Matthew C. Forman

Head of Bioinformatics at Premaitha Health

Based at Manchester Science Park, Premaitha Health is an innovative molecular diagnostics company employing the latest advances in DNA analysis technology to develop tests for non-invasive prenatal screening (NIPT) and other applications.

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