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An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research

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journal contribution
posted on 2011-06-22, 11:45 authored by Adam J. Webb, Gudmundur A. Thorisson, Anthony J. Brookes, GEN2PHEN Consortium
Explosive growth in the generation of genotype-to-phenotype (G2P) data necessitates a concerted effort to tackle the logistical and informatics challenges this presents. The GEN2PHEN Project represents one such effort, with a broad strategy of uniting disparate G2P resources into a hybrid centralized-federated network. This is achieved through a holistic strategy focussed on three overlapping areas: data input standards and pipelines through which to submit and collect data (data in); federated, independent, extendable, yet interoperable database platforms on which to store and curate widely diverse datasets (data storage); and data formats and mechanisms with which to exchange, combine, and extract data (data exchange and output). To fully leverage this data network, we have constructed the “G2P Knowledge Centre” ( This central platform provides holistic searching of the G2P data domain allied with facilities for data annotation and user feedback, access to extensive G2P and informatics resources, and tools for constructing online working communities centered on the G2P domain. Through the efforts of GEN2PHEN, and through combining data with broader community-derived knowledge, the Knowledge Centre opens up exciting possibilities for organizing, integrating, sharing, and interpreting new waves of G2P data in a collaborative fashion.



Human Mutation, 2011, 32, pp. 543-50.

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Human Mutation




1098-1004 (Online)

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This is the published article. It is reproduced here with the publisher's permission (OnlineOpen Wiley). This is an open access article and it is also freely accessible from the publisher's website at: ; DOI: 10.1002/humu.21469



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