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’