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 (Gonzalez et al., 2013). 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. This article is protected by copyright. All rights reserved.
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 July 2015.
All research outputs
#19,945,185
of 25,374,917 outputs
Outputs from Human Mutation
#2,519
of 2,982 outputs
Outputs of similar age
#189,268
of 276,267 outputs
Outputs of similar age from Human Mutation
#30
of 39 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,982 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 13th percentile – i.e., 13% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 276,267 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 39 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
