Illumina's standalone KaryoStudio software package offers functionalities specifically designed for the cytogenetics lab. Developed in collaboration with molecular cytogeneticists, KaryoStudio software provides a user-friendly interface for loading, displaying, and analyzing data using simple, easy-to-use workflows along with cross-matching and reporting functions. This software solution supports analysis of data generated by Illumina's Infinium HD BeadChips including the HumanCytoSNP-12 BeadChip.
| KaryoStudio Highlights | |
|---|---|
| Simplified Analysis | Offers user-friendly, intuitive analysis of Infinium HD BeadChip data |
| Filters | Allows for customization of data and inclusion or exclusion of benign CNVs |
| Automated Detection | Identifies aberrant regions with 0-4 copies including loss of heterozygosity |
| Integrated Chromosomal Browser | Displays gene information, found regions, and regions previously associated with phenotypes |
| Cross-matching | Links to databases such as the Database of Genomic Variants, UCSC genome browser, and DECIPHER for further data analysis |
| Adjustable Database | Enables use of standard region list, or customer-selected regions and phenotypes for cross-matching |
| Reporting | Generates PDF reports summarizing results |
| Comprehensive User Guide | Describes recommended workflows, how to analyze data, and how to generate reports |