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Structured gene annotations are a foundation on which many
bioinformatics and statistical analyses are built, however their
representation is quite sparse. As centralized biocuration
efforts struggle to keep up with the rate of biomedical data
generation, new models for gene annotation need to be
explored.
Recently, online games have emerged as an effective way to
recruit, engage and organize contributors to help address
difficult challenges [1] like online image tagging (ESP Game),
protein folding (Foldit) [2], or multiple sequence alignment
(Phylo) [3].
We present here two online games - Dizeez and GenESP - aimed
at identifying novel gene-disease annotations, i.e. gene-
disease links well established in the literature, but not yet
reflected as structured annotations. Preliminary results are
provided from game play online and at scientific conferences.
These data suggest that even after limited game play, novel
gene-disease annotations can be mined from game playing logs.
Play game prototypes at:
ABSTRACT
Salvatore Loguercio, Benjamin M Good, Andrew I Su
The Scripps Research Institute, La Jolla, California, USA
REFERENCES
We acknowledge support from the National Institute of General Medical Sciences (GM089820 and
GM083924) and the NIH through the FaceBase Consortium for a particular emphasis on
craniofacial genes (DE-20057).
.
CONTACT
Benjamin Good: bgood@scripps.eduSalvatore Loguercio: loguerci@scripps.eduAndrew Su: asu@scripps.edu
1. Good and Su (2011) Games with a Scientific Purpose. Genome Biology
2. Khatibet al (2011) Algorithm discovery by protein folding game players. PNAS
3. Kawrykowet al (2012) Phylo: A Citizen Science Approach for Improving Multiple Sequence Alignment. PLoS One
ABSTRACT
FUNDING
Guess what genes your partner is thinking about when they
see ‘neuroblastoma’
http://genegames.org
GeneESP: gene – concept association with a partner
Game Objectives
Dizeez: gene – disease annotation quiz
Top associations provided four or more times and not found in
OMIM/PharmGKB.
Even after limited game playing, the Dizeez game resulted in the identification of several novel gene-disease annotations.
Preliminary Results713 games, 180players;
Overall: 4,585 unique gene-disease assertions.
224 assertions provided more than once and not found in
OMIM/PharmGKB.
Improvements compared to Dizeez:• Reward new, useful annotations with points• Add social interaction• Enable gene-gene, gene-disease, gene-function
games on the same platform• Increase scalability of annotation collection (does
not depend on a database of ‘right’ answers)
Phenotype
gene pathway
gene
• Capture general community knowledge in a useful structure
• Concentrate community knowledge and reasoning around predicting a particular phenotype
Community
Community building and educational aspects
Select the disease related to the clue gene. Guess as many as you can in one minute.
Every guess adds weight to a link between a gene and a disease.
Phenotype 1
Phenotype 2
Online games for human gene annotation
Game review
Connect players withpublished informationon genes and diseases
Training Game
Use the Knowledge Powers! Powered by and MyGene.Info
MyGeneInfo box
WordClouds
Gene Autocomplete
See Poster A40, ‘Combo’
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