title: Innovative genomic collaboration using the GENESIS (GEM.app) platform.
abstract: Next-generation sequencing has led to an unparalleled pace of Mendelian disease gene discovery in recent years. To address the challenges of analysis and sharing of large datasets, we had previously introduced the collaborative web-based GEM.app software [Gonzalez et al., ]. Here, we are presenting the results of using GEM.app over nearly 3 years and introducing the next generation of this platform. First, GEM.app has been renamed to GENESIS since it is now part of "The Genesis Project" (501c3), a not-for-profit foundation that is committed to providing the best technology to enable research scientists and to connecting patients and clinicians to genomic information. Second, GENESIS (GEM.app) has grown to nearly 600 registered users from 44 countries, who have collectively achieved 62 gene identifications or published studies that have expanded phenotype/genotype correlations. Our concept of user-driven data sharing and matchmaking is now the main cause for gene discoveries within GENESIS. In many of these findings, researchers from across the globe have been connected, which gave rise to the genetic evidence needed to successfully pinpoint-specific gene mutations that explained patients' disease. Here, we present an overview of the various novel insights that have been made possible through the data-sharing capabilities of GENESIS/GEM.app.
authors.affiliation: The Genesis Project Inc, Miami, Florida, 33136.
authors.forename: Michael
authors.initials: M
authors.lastname: Gonzalez
authors.affiliation: Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104.
authors.forename: Marni J
authors.initials: MJ
authors.lastname: Falk
authors.affiliation: Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
authors.forename: Xiaowu
authors.initials: X
authors.lastname: Gai
authors.affiliation: The Genesis Project Inc, Miami, Florida, 33136.
authors.forename: Richard
authors.initials: R
authors.lastname: Postrel
authors.affiliation: Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, 72076, Germany.|German Center for Neurodegenerative Diseases, Tübingen, 72076, Germany.|Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Schüle
authors.affiliation: Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.
authors.forename: Stephan
authors.initials: S
authors.lastname: Zuchner
mesh_terms: D019295:Computational Biology / Q000379:methods*; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D010641:Phenotype; D035583:Rare Diseases / Q000235:genetics*; D012984:Software; D014584:User-Computer Interface; D064878:Web Browser
keywords: Mendelian disease; data sharing; exome; matchmaker exchange; next-generation sequencing