Innovative genomic collaboration using the GENESIS (GEM.app) platform

摘要

Next-generation sequencing has lead 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 (). Here we are presenting the results of using GEM.app over nearly three years and introducing the next generation of this platform. Firstly, GEM.app has been renamed to GENESIS since it is now part of ‘The Genesis Project’ (501c3), a non-for-profit foundation that is committed to providing the best technology to enable research scientists and to connecting patients and clinicians to genomic information. Secondly, 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.