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


BACKGROUND
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.
Stoyanovich
Julia
J
Department of Computer Science, Columbia University, 1214 Amsterdam Avenue, New York, NY 10025, USA. jds1@cs.columbia.edu
Pe'er
Itsik
I
D000465:Algorithms; D002874:Chromosome Mapping / Q000379:methods*; D003628:Database Management Systems; D030541:Databases, Genetic; D020869:Gene Expression Profiling / Q000379:methods; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012984:Software; D018511:Systems Integration
D005819:Genetic Markers