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Nat Rev Genet. 2015 Dec;16(12):702-15. doi: 10.1038/nrg3932. Epub 2015 Nov 10.

Human genotype-phenotype databases: aims, challenges and opportunities.

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Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.
Data to Knowledge for Practice Facility, Cardiovascular Research Centre, Glenfield Hospital, Leicester LE1 9HN, UK.
Institute for Medical Genetics and Human Genetics, and the Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Institute for Bioinformatics, Department of Mathematics and Computer Science, Free University of Berlin, 14195 Berlin, Germany.


Genotype-phenotype databases provide information about genetic variation, its consequences and its mechanisms of action for research and health care purposes. Existing databases vary greatly in type, areas of focus and modes of operation. Despite ever larger and more intricate datasets--made possible by advances in DNA sequencing, omics methods and phenotyping technologies--steady progress is being made towards integrating these databases rather than using them as separate entities. The consequential shift in focus from single-gene variants towards large gene panels, exomes, whole genomes and myriad observable characteristics creates new challenges and opportunities in database design, interpretation of variant pathogenicity and modes of data representation and use.

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