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Bioinformatics Advance Access originally published online on November 29, 2007
Bioinformatics 2008 24(3):440-442; doi:10.1093/bioinformatics/btm587
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© 2007 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.

MutaGeneSys: estimating individual disease susceptibility based on genome-wide SNP array data

Julia Stoyanovich * and Itsik Pe'er

Department of Computer Science, Columbia University, 1214 Amsterdam Avenue, New York, NY 10025, USA

*To whom correspondence should be addressed.


  Abstract

Summary: We present MutaGeneSys: a system that uses genome-wide genotype data to estimate disease susceptibility. Our system integrates three data sources: the International HapMap project, whole-genome marker correlation data and the Online Mendelian Inheritance in Man (OMIM) database. It accepts SNP data of individuals as query input and delivers disease susceptibility hypotheses even if the original set of typed SNPs is incomplete. Our system is scalable and flexible: it produces population, technology and confidence-specific predictions in interactive time.

Availability: Our system is available as an online resource at http://magnet.c2b2.columbia.edu/mutagenesys/. Our findings have also been incorporated into the HapMap Genome Browser as the OMIM_Disease_Associations track.

Contact: jds1{at}cs.columbia.edu

Associate Editor: Jonathan Wren

Received on May 29, 2007; revised on October 16, 2007; accepted on November 22, 2007

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