JUN 20, 2018 9:00 AM PDT

Better Care with Better Knowledge

Sponsored by: QIAGEN
Speaker
  • Director, GPM Genetic Disease Informatics
    Biography
      An industry veteran, Rupert has helped early NGS companies including Life Technologies and Illumina successfully commercialize their sequencing platforms while making bioinformatics more accessible to the late adopters. As the leader of QIAGEN Bioinformatics' Hereditary Disease Portfolio, he is responsible for QIAGEN's Knowledge offerings including HGMD, CentoMD, QIAGEN Knowledgebase, and Ingenuity Variant Analysis. Rupert has a Masters in Computer Science and a PhD in Physiology. He was a Howard Hughes Postdoctoral Fellow in Genetics at Harvard Medical School before joining the ranks of industry.

    Abstract

    When the human genome was sequenced almost 15 years ago, it was a milestone for the understanding of an individual’s genome.  However to fully understand a disease, millions of individuals will need to be sequenced. As more patients samples are sequenced around the world, we are on the verge of understanding the genetic basis of disease.  QIAGEN is now a leader in aggregating the world’s knowledge of genetic diseases.  We have been manually curating genetic evidence for the past 20 years and have partnered with clinical testing labs throughout the world to bring knowledge of variants across all human genes (>23,000).  With the experience of having interpreted over 750,000 human samples, QIAGEN’s knowledgebase is the most comprehensive genetic knowledgebase in the world. This deep knowledge is able to quickly supply clinical evidence for rapid interpretation of NGS data as well as reduce the number of variants of unknown significance in NGS interpretation.


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