Ilkka Lappalainen

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To the Editor: When the road map for sequencing the human genome was laid out, the study of genetic variation was deemed a critical component1, with the mapping of SNPs initially being a priority. The availability of a high quality human reference assembly2 facilitated the discovery and characterization of structural variation of DNA, with copy number(More)
Much has changed in the last two years at DGVa ( and dbVar ( We are now processing direct submissions rather than only curating data from the literature and our joint study catalog includes data from over 100 studies in 11 organisms. Studies from human dominate with data from control and case(More)
publicly funded organizations, and the former is an intergovernmental organization formed by a collection of mostly European member and associate member states. Since the launch of the EGA, researchers from around the world have deposited and accessed data from over 700 of its studies of various types (Fig. 1 and Table 1). These studies vary from(More)
UNLABELLED SIMBioMS is a web-based open source software system for managing data and information in biomedical studies. It provides a solution for the collection, storage, management and retrieval of information about research subjects and biomedical samples, as well as experimental data obtained using a range of high-throughput technologies, including gene(More)
The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to(More)
BACKGROUND Translational researchers need robust IT solutions to access a range of data types, varying from public data sets to pseudonymised patient information with restricted access, provided on a case by case basis. The reason for this complication is that managing access policies to sensitive human data must consider issues of data confidentiality,(More)
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