Updates to Illumina Tertiary Analysis software for Q1 2020

Eric Scheeff, Product Manager for Biological Interpretation

Illumina continues to invest in its solutions for interpretation of genomic data, and we are excited to announce the following improvements for Q1 2020:

BaseSpace Variant Interpreter (BSVI)

BaseSpace Variant Interpreter enables genetic labs to rapidly identify biologically significant variants from human genomic data. BSVI has incorporated a number of improvements that provide improved case searching, sorting, and management. For more information, review the recent release notes.

BaseSpace Cohort Analyzer and Correlation Engine: More is Better

BaseSpace Cohort Analyzer allows you to integrate and analyze subject and genomic data together using innovative visualization and analysis tools. Cohort Analyzer now features all-new Autoimmune disease content, totaling 1,161 new consented subjects. Expression data for all these new subjects is based on modern RNA-Seq technology. This pushes the number of consented subjects available for analysis in Cohort Analyzer to more than 26,000.

BaseSpace Correlation Engine extends your research by integrating your data with the world’s genomic knowledgebase. The Correlation Engine studies database continues to grow, and now encompasses more than 23,000 curated studies that can be used for a range of correlation analyses. The system also now includes additional datafor 112 disorders, including 10 disorders represented for the first time, such as Presenile Onset Primary Degenerative dementia of the Alzheimer Type, Small cell Carcinoma of the Prostate, Heritable Pulmonary Arterial Hypertension, and more.

For Research Use Only.