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SNPedia:一个支持个人基因组注释、解释和分析的维基。

SNPedia: a wiki supporting personal genome annotation, interpretation and analysis.

机构信息

River Road Bio, LLC, 9812 Falls Road #114-237, Potomac, Maryland, MD 20854, USA.

出版信息

Nucleic Acids Res. 2012 Jan;40(Database issue):D1308-12. doi: 10.1093/nar/gkr798. Epub 2011 Dec 2.

Abstract

SNPedia (http://www.SNPedia.com) is a wiki resource of the functional consequences of human genetic variation as published in peer-reviewed studies. Online since 2006 and freely available for personal use, SNPedia has focused on the medical, phenotypic and genealogical associations of single nucleotide polymorphisms. Entries are formatted to allow associations to be assigned to single genotypes as well as sets of genotypes (genosets). In this article, we discuss the growth of this resource and its use by affiliated software to create personal genome reports.

摘要

SNPedia(http://www.SNPedia.com)是一个关于人类遗传变异功能后果的维基资源,这些研究结果都已在同行评审的期刊上发表。自 2006 年上线以来,SNPedia 一直免费向个人开放,专注于单核苷酸多态性与医疗、表型和谱系的关联。其条目格式允许将关联分配给单个基因型以及基因型集(genosets)。在本文中,我们将讨论该资源的发展以及它被关联软件用于创建个人基因组报告的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04a9/3245045/99240f8c2eca/gkr798f1.jpg

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