Abstract
The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) operates a database with an important function in medical genetics - the sharing of clinical and genetic variant data for genes associated with inherited colorectal cancer. The Leiden Open Variation Database (LOVD) technology used for this task has been updated to handle genomic data that is increasingly being generated, often for patients or individuals with diverse clinical phenotypes. The issue of variant interpretation is a high priority, and InSiGHT’s approach is detailed here, as well as other technical challenges and possible solutions.
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Plazzer, J. P., Den Dunnen, J., & Macrae, F. (2018). The insight database: An example lovd system. In Hereditary Colorectal Cancer: Genetic Basis and Clinical Implications (pp. 469–478). Springer International Publishing. https://doi.org/10.1007/978-3-319-74259-5_29
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