Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations

Authors

  • Eleana F. Stavrou,

    Corresponding author
    1. Molecular Genetics Unit, Department of General Biology, School of Medicine, University of Patras, Rion, Greece
    • Molecular Genetics Unit, Department of General Biology, School of Medicine, University of Patras, Ipokratous, Rion 26500, Greece.
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  • Anne Goriely

    1. Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
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Abstract

The 11th International Symposium on Mutations in the Genome was held on 6–10 June, 2011, in Santorini, Greece. Meeting participants described novel detection technologies, rapid advances in whole genome and whole-exome sequencing, but also highlighted the urgent need for the development of sequence variation databases and the clinical interpretation of the genomic data. This report summarizes some of the major themes presented during the meeting. Hum Mutat 33:1497–1500, 2012. © 2012 Wiley Periodicals, Inc.

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