With advances in high-throughput SNP genotyping technologies, researchers now need to manage and analyze vast amounts of data. The DiseaseMiner™ Professional shortens the time to discovery and enables customers to leverage their investments in genotyping as well as detailed phenotyping.

DiseaseMiner™ Professional is a highly advanced and feature-rich software tool designed for large scale genetic research. It has an intuitive graphical interface for data visualization, which makes it easy for researchers to perform statistical analysis and interpret results, even for those who are not experts in statistical genetics.

DiseaseMiner™ Professional allows researchers to:

• Quickly perform statistical analysis in matter of minutes using proven genotype algorithms.
• Easily manage and query large phenotype, genealogy and genotype datasets.
• Determine genes and markers associated to phenotypes, copy number variations, LD blocks etc.
• Easily sub-select data from very large marker maps for additional analysis.
• Calculate genotype statistics to perform data quality checks.

DiseaseMiner™ Professional offers the following key features:

• Clinical data - phenotypes: Import, manage and query large datasets
• Family data: Import data, cluster subfamilies and draw pedigrees for large extended families
• Genetic analysis: Genome-wide association (Fishers-Exact, TDT, S-TDT, CNV) and haplotype analysis for genomic sub-regions (multipoint EM case-control, TDT, LD, Clark’s inference algorithm)
• Genome browser: High speed visualization and browsing with multiple analyses results in one view
• Marker and gene data base: Database of over 30,000 known genes and 9 million SNPs, and import proprietary information

DiseaseMiner™ Professional has a spread-sheet like grid based report tool for data visualization, analysis, imports, and exports and a customizable folder structure for storing objects such as patient reports, pedigrees, analysis jobs, etc. It uses a standardized window manager for organizing view of multiple analysis windows and a framework for queuing, parallelization and storage of computational intensive analysis.

Proof-of-principle
DiseaseMiner™ Professional has been developed and used by researchers at deCODE for more than a decade. The statistical algorithms and data structures used in the program have been optimized for a large number of clinical samples as well as extremely high volumes of genotypes to meet the output demands of modern high-throughput SNP genotyping technologies.

We used DiseaseMiner™ Professional to quickly rediscover the widely replicated gene, TCF7L2 gene for Type 2 diabetes based on our GWA results using the 300K Illumina bead array on 1491 patients vs 4712 controls. The same SNP we reported in Nature Genet. Jan 2006 found by positional cloning.

Enables our clients to make fast discoveries
DiseaseMiner™ Professional is offered to our genome-wide association clients. It is provided via a preconfigured hardware-software set-up and is ready to use. The system is delivered with predefined user accounts, a project for the client data and a demo project. It can seamlessly import additional chip data files from deCODE and client follow-on data from smaller SNP datasets.

For more information, please contact services@decode.com.