The Exemplar for Genotyping Analysis Suite was devised to model the genetic roots of disease using an advanced machine learning technology called a Genetic Algorithm.  Our analysis solution takes raw genotype data all the way through the analysis pipeline to biological interpretation. The Suite is constructed of four analysis modules that take different approaches toward the understanding of genetic affectations.

• The GA Module (Genetic Algorithm Module), models the patterns of genotypes that is most closely related to the studied affectation. 
• The AS Module (Association Study Module) is a computational tool that provides a host of association statistics to pinpoint genomic regions of interest from any high-density study..
• To guide the biological interpretation of the results we created the GO Module (Gene Ontology Module).  This software module takes advantage of powerful graphics and an extensive internal database of ontology information to visually guide you to common root causes of disease. 
• Finally, there is the CA Module (Chromosome Alteration Module).  This module performs Loss of Heterozygosity analysis on the input dataset.

Together, these Modules comprise the Exemplar for Genotyping Analysis Suite, and form a powerful research solution in the face of complex biology.

What's New in Version 3.0.001
Exemplar version 3.0.001 includes the following new and improved features:

1. Direct wizard-driven import of ABI formatted data files, including hCV and dbSNP RSID notation
2. Support for ABI allele-based input files in addition to genotype-based input files
3. Empirical calculation and tracking of major / minor allele for each SNP in allele-based input datasets
4. NCBI dbSNP database for automatic lookup and mapping of SNP's
5. Cytoband mapping information for all SNP's on all platforms
6. Gene mapping information for all SNP's for all platforms with user-specified gene-distance
7. Hardy-Weinberg Equilibrium
8. EM Algorithm for haplotyping
9. Permutation Testing for validation of Genetic Algorithm experiments
10. Project folders for organization of experiments
11. Graphical display of LOH mean pValue for groups of SNP's based on user-configurable block size
12. Display of ABI and Affymetrix SNP ID's for corresponding RS ID's.
13. Ability to display experiments from different platforms simultaneously on Chromosome Viewer
14. Added chromosome selection to filter for display of LD, D' and R2 results
15. Updated Affymetrix SNP information, dbSNP, ABI hCV, Gene and Gene Ontology information
16. Display of Cytobands on Chromosome Viewer
17. Added "SNP Details" report to Chromosome Viewer for all currently displayed SNP's
18. Added hyperlinks to Chromosome Viewer for SNP and Gene labels
19. Hyperlinks for Genes link directly to homo sapiens NCBI Entrez Gene page using their Gene ID
20. Defaulting of platform type and data directories based on last-used

About Sapio Sciences LLC
Sapio Sciences is a leading provider of bioinformatics software, enabling scientists to get biologically significant information from their sequence, gene and protein array experiments. Sapio will continue to break new ground in applying the most advanced AI technology available to problems within the biological domain. Sapio, with its extensive background in biological data analysis, also offers data analytics consulting for companies that want to outsource this function. Sapio has formed partnerships with Illumina, Expression Analysis and Genome Explorations. Sapio’s products are 100% GeneChip compatible enabling seamless integration with the Affymetrix platform. Part of Sapio’s mission is to accelerate discovery research for human, animal, and plant afflictions. To fulfill this mission, Sapio is committed to creating world class, innovative solutions to aid life science researchers, and to donating a percentage of profits directly to research centers focused on identifying disease causes and cures.