Innovative genomic collaboration using the GENESIS ( platform

Hum Mutat. 2015 Oct;36(10):950-6. doi: 10.1002/humu.22836. Epub 2015 Aug 12.


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 software [Gonzalez et al., ]. Here, we are presenting the results of using over nearly 3 years and introducing the next generation of this platform. First, 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 ( 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/

Keywords: Mendelian disease; data sharing; exome; matchmaker exchange; next-generation sequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods*
  • Databases, Genetic
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation
  • Humans
  • Information Dissemination / methods*
  • Phenotype
  • Rare Diseases / genetics*
  • Software
  • User-Computer Interface
  • Web Browser