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Chunk #53 — Methods — Organization and categorization of mouse phenome

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Joint mouse-human phenome-wide association to test gene function and disease risk.
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The BXD Phenotype database has been amassed by literature review, direct data entry by our team, and by collaboration with many investigators. Data are reviewed before entry in GeneNetwork by the senior author. Phenotypes are currently split into 15 broad phenotypic categories (Supplementary Data 1). Phenome curation and description was initiated by R.W.W. and Dr Elissa Chesler in 2002 by literature review and data extraction. The early work is described briefly in Chesler et al.5152. Most work over the past 5 years has been performed by two of the coauthors (R.W.W. and M.K.M.). We have used a controlled vocabulary and set of rules described here (http://www.genenetwork.org/faq.html#Q-22). Descriptions include a ‘prefix' of major biological and domain categories such as ‘central nervous system', ‘cancer biology' and ‘immune system'. These domains have been used to define major categories used in figures and graphs.