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

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

Michael Gonzalez  1 , Marni J Falk  2 , Xiaowu Gai  3 , Richard Postrel  1 , Rebecca Schüle  4   5   6 , Stephan Zuchner  6
Affiliations

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

Michael Gonzalez et al. Hum Mutat. 2015 Oct.

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.

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

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Figures

Figure 1
Figure 1
Basic characteristics of GENESIS/GEM.app. A) Discovery of novel genes for Mendelian diseases and mutation screening studies. B) The cumulative publication impact score of published papers using GENESIS/GEM.app. C) The cumulative growth of the user base until to 3/2015.
Figure 2
Figure 2
World maps of the current distribution of data contributors and overall users of GENESIS/GEM.app. A) Location of all registered and approved users of GENESIS/GEM.app until 3/2015. B) Color and size of circles indicate number of available data sets.
Figure 3
Figure 3
Major phenotype distribution of data sets in GENESIS/GEM.app. Size of circles corresponds to relative contribution to the 5,200 whole exomes and 800 genomes. AD - Alzheimer Disease, MCI - Mild Cognitive Impairment, ALS - Amyotrophic lateral sclerosis, park - Parkinson Disease, mito - mitochondrial disease, HSP - Hereditary spastic paraplegia, ocular - ocular disorders.
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