MAY 12, 2016 06:00 AM PDT

The sequencing of 10,000 Human Genomes

  • Head of Genomics, Human Longevity, Inc., Research Scientist, J Craig Venter Institute
      Amalio Telenti is head of genomics at Human Longevity. He directs a team working on genetics (annotation of genome reports, pharmacogenetics) and genomics (reference genomes, analysis of non-coding genome regions, and data integration). Recently, he led the analysis of the first 10,000 genomes sequenced at HLI.

      A. Telenti trained in internal medicine and infectious diseases at the Mayo Clinic (Rochester, MN), and in microbiology and genetics at the University of Berne, Switzerland, at the Albert Einstein College of Medicine (Bronx, NY), and at the Ragon Institute of MGH, MIT and Harvard (Boston, MA). Between 2007 and 2014 he was professor and director of the Institute of Microbiology at the University of Lausanne, Switzerland. He has published extensively and received many national and international awards, including the prestigious Cloëtta Award, one of the highest distinctions in medicine in Switzerland. In 2012, he was elected member of the Swiss Academy of Medical Sciences. He maintains academic affiliations with the J. Craig Venter Institute and with the Department of Medicine, University of California San Diego.


    Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate coverage of the genome (4x to 20x sequencing depth). The recent release of the Illumina HiseqX-Ten allows the sequencing of up to 160 genomes at 30x mean depth in 3 day cycles, at an average cost of $1,000 to $2,000 per genome. We evaluated the capabilities of this new technology by sequencing 10,545 human genomes at high depth. This allowed for the development of a reliable representation of human single nucleotide variation, the reporting of clinically relevant single nucleotide variants and the identification of additional non-reference and of putative human-like sequences.

    Learning objectives
    1.    Evaluating the impact of deep sequencing for the reporting on single genomes
    2.    Understanding the pace of discovery afforded by large scale sequencing of human genomes

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