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Nucleic Acids Research Advance Access originally published online on November 26, 2008
Nucleic Acids Research 2009 37(Database issue):D1018-D1024; doi:10.1093/nar/gkn939
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Nucleic Acids Research, 2009, Vol. 37, Database issue D1018-D1024
© 2008 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

This article appears in the following Nucleic Acids Research issue: Database issue [View the issue table of contents]

Articles

The HuRef Browser: a web resource for individual human genomics

Nelson Axelrod*, Yuan Lin, Pauline C. Ng, Timothy B. Stockwell, Jonathan Crabtree, Jiaqi Huang, Ewen Kirkness, Robert L. Strausberg, Marvin E. Frazier, J. Craig Venter, Saul Kravitz and Samuel Levy*

J. Craig Venter Institute, 9704 Medical Center Drive, Rockville, MD 20850, USA

*To whom correspondence should be addressed. Tel: +1 301 795 7382; Fax: +1 301 294 3142; Email: naxelrod{at}jcvi.org

Correspondence may also be addressed to Samuel Levy. Tel: +1 301 795 7382; Fax: +1 301 294 3142; Email: slevy{at}jcvi.org

Received October 27, 2008. Revised November 4, 2008. Accepted November 5, 2008.

The HuRef Genome Browser is a web application for the navigation and analysis of the previously published genome of a human individual, termed HuRef. The browser provides a comparative view between the NCBI human reference sequence and the HuRef assembly, and it enables the navigation of the HuRef genome in the context of HuRef, NCBI and Ensembl annotations. Single nucleotide polymorphisms, indels, inversions, structural and copy-number variations are shown in the context of existing functional annotations on either genome in the comparative view. Demonstrated here are some potential uses of the browser to enable a better understanding of individual human genetic variation. The browser provides full access to the underlying reads with sequence and quality information, the genome assembly and the evidence supporting the identification of DNA polymorphisms. The HuRef Browser is a unique and versatile tool for browsing genome assemblies and studying individual human sequence variation in a diploid context. The browser is available online at http://huref.jcvi.org.


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