Bioinformatics and Genomic Technology

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.

  • Novel bioinformatics/computational tools and methods
  • Improvements on existing bioinformatics/computational tools or updated versions
  • Improvements on existing bioinformatics/computational tools or updated versions
  • Improvements on existing bioinformatics/computational tools or updated versions
  • Use of existing bioinformatic methods for novel discovery
  • Methods/tools for variant calling in human genomes
  • Genome sequencing and assembly
  • Methods for data integration

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