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Centre de recherche

Tuesday 8 January 2019 from 12:00 at 13:00

Genomics beyond the base-pair: Harnessing real-time sequencing for precision medicine

Scientific Conference


  • Martin Smith, PhD
    • Conjoint Lecturer, St Vincent’s Clinical School, Faculty of Medicine, UNSW Sydney

Despite the fact that most disease-associate genomic variants lie outside protein-coding genes, whole exome short read sequencing remains the predominant test for clinical genomics. As genomic technologies and their accessibility progress, how do we integrate non-coding variants into clinical genomics? What are the limitations of bulk short read sequencing, and how can we improve diagnostic yields to efficiently deliver precision genomic medicine? I will present computational strategies and genomic applications that address these questions. In addition to the functional annotation of long non-coding RNAs, I will expose how we are using nanopore sequencing to better understand complex diseases, epigenetics, RNA modifications, and single-cell sequencing in oncoimmunology. I will also touch on how real-time sequencing is set to revolutionize many aspects of clinical genomics, and how we are tackling this challenge. 

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Updated on 1/9/2019
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