Ingenuity Systems, a leading provider of Weill Cornell Medical College has chosen Ingenuity Variant Analysis and Ingenuity iReport for use in its sequencing core facility.

Variant Analysis will be used to identify causal variants from the output of whole genome and exome sequencing experiments and iReport will be used for the biological interpretation of RNA-Seq and other gene expression data.

The ability to rapidly and reliably identify causal variants and relevant pathways from NGS studies is imperative for realizing the full value of NGS platforms. The Ingenuity NGS offerings leverage the unique and proprietary Ingenuity Knowledge Base to provide researchers with a rapid and evidence-backed biological analysis of their NGS experiments. Ingenuity Variant Analysis offers a unique combination of filtering, analytics, and richly annotated content that allows researchers to identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and the researcher's own knowledge of disease biology. Researchers working with RNA-Seq data can use Ingenuity iReport to quickly and accurately determine key affected pathways and biological processes, and understand the molecular and genetic basis of observed gene expression changes – all with peer-reviewed literature support.

“Pathway analysis is essential for elucidating the molecular networks affected by rare variants and for discovering the compounding, perturbing effects within biological processes which encompass many genetic loci,” stated Christopher Mason, PhD, assistant professor, Institute for Computational Biomedicine, Cornell University. “Ingenuity Variant Analysis enables us to rapidly identify the most compelling variants from an NGS resequencing study, and Ingenuity iReport makes rich biology and networks underlying an RNA-Seq study really approachable and intuitive. Both solutions provide a unique combination of filtering, analytics, and deep expert-curated annotation content, so we can quickly prioritize variants and genes of interest.”

“Cornell and the Mason laboratory are pioneering in clinical applications of NGS for the benefit of patients,” stated Doug Bassett, PhD, chief scientific officer and chief technology officer, Ingenuity Systems. “It has been a pleasure working with Cornell researchers in the development of our new NGS product capabilities—and we are pleased to have these new products leveraged as part of their NGS core laboratory offering.”

Ingenuity Systems is a leading provider of information solutions and custom services for life science researchers, computational biologists and bioinformaticists, and life science industry suppliers.