Bioinformatics for Human Genetics: Promises and Challenges

Authors

  • Annika Lindblom,

    Corresponding author
    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    • Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm S17176, Sweden
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  • Peter N. Robinson

    Corresponding author
    1. Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
    2. Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany
    3. Max Planck Institute for Molecular Genetics, Berlin, Germany
    • Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353 Germany
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  • For the HVP Bioinformatics Special Issue

Abstract

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of “Bioinformatics and Human Genetics” as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the “hot” computational topics over the next decade. These experts identify the promise—what human geneticists who are not themselves bioinformaticians stand to gain—as well as the challenges and unmet needs that are likely to represent fruitful areas of research. Hum Mutat 32:495–500, 2011. © 2011 Wiley-Liss, Inc.

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