Neurocarta: aggregating and sharing disease-gene relations for the neurosciences

BMC Genomics

Database

Paul Pavlidis¹  Frances Lui¹  Anton Zoubarev¹  Luchia Tseng¹  Nicolas St-Georges¹  Cathy Kwok¹  Elodie Portales-Casamar¹  Mark Lee¹  Willie Kwok¹  Carolyn Ch’ng¹  Artemis Y Lai¹ 

[1] Centre for High-Throughput Biology and Department of Psychiatry, University of British Columbia, 2125 East Mall, BC V6T1Z4, Vancouver, Canada;

关键词: Phenotype;    Genes;    Knowledgebase;    Brain development;   

DOI  :  10.1186/1471-2164-14-129

 received in 2012-07-31, accepted in 2013-02-23,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundUnderstanding the genetic basis of diseases is key to the development of better diagnoses and treatments. Unfortunately, only a small fraction of the existing data linking genes to phenotypes is available through online public resources and, when available, it is scattered across multiple access tools.DescriptionNeurocarta is a knowledgebase that consolidates information on genes and phenotypes across multiple resources and allows tracking and exploring of the associations. The system enables automatic and manual curation of evidence supporting each association, as well as user-enabled entry of their own annotations. Phenotypes are recorded using controlled vocabularies such as the Disease Ontology to facilitate computational inference and linking to external data sources. The gene-to-phenotype associations are filtered by stringent criteria to focus on the annotations most likely to be relevant. Neurocarta is constantly growing and currently holds more than 30,000 lines of evidence linking over 7,000 genes to 2,000 different phenotypes.ConclusionsNeurocarta is a one-stop shop for researchers looking for candidate genes for any disorder of interest. In Neurocarta, they can review the evidence linking genes to phenotypes and filter out the evidence they’re not interested in. In addition, researchers can enter their own annotations from their experiments and analyze them in the context of existing public annotations. Neurocarta’s in-depth annotation of neurodevelopmental disorders makes it a unique resource for neuroscientists working on brain development.

【 授权许可】

Unknown   
© Portales-Casamar et al; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.