2007 Reports

MutaGeneSys: Making Diagnostic Predictions Based on Genome-Wide Genotype Data in Association Studies

Stoyanovich, Julia; Pe'er, Itshack G.

Summary: We present MutaGeneSys: a system that uses genomewide genotype data for disease prediction. 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 operates in real time and can be configured on the fly to produce population, technology, and confidence-specific predictions. Availability: Efforts are underway to deploy our system as part of the NCBI Reference Assembly. Meanwhile, the system may be obtained from the authors. Contact: jds1@cs.columbia.edu