MAY 11, 2016 7:30 AM PDT

Keynote: Genomes for Medicine

Speaker
  • Vice President & Chief Scientist, Illumina Inc.
    Biography
      David graduated with an M.A. in Natural Sciences from Cambridge and a D.Phil from Oxford. During his career he has been a Senior Lecturer at London University; and later the Head of Human Genetics and a founder member of the Board of Management at the Sanger Centre. David has played a leading role in the Human Genome Project and related international consortia to characterise human sequence variation, including The SNP Consortium and the HapMap Project. His long-term interest is the study of human sequence variation and its impact on human health and disease. His current research is focussed on fast, accurate sequencing of human genomes for adoption and benefit in healthcare.

    Abstract

    Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold improvement in the rate of sequence data generation (bases/day/instrument).  As a result, it is now possible to decode a person’s genome and return the annotated sequence for biological and clinical interpretation in a few days.  Current research is focussed on refining methods for sequencing real-world clinical samples, benchmarking accuracy, refining variant calling, improving annotation and reporting, and in developing process workflows to enable whole genome sequencing at a national scale.  Early applications of clinical whole genome sequencing include detection of mutations in patients suffering rare genetic disease or cancer. Aggregation of individual genome sequences alongside clinical and other phenotypic information will create an integrated knowledgebase that underpins a new era of genomic medicine.


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