February 22, 2022
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Discover and detect structural variants throughout the genome to gain a comprehensive understanding of disease mechanisms.
Today we’re pleased to announce the launch of two new product offerings that will empower scientists to detect and discover structural variants from their 3D genomic data.
Our customers can now leverage the new Arima-HiC+ FFPE kit and workflow with formalin fixed paraffin embedded (FFPE) tissues and use the Arima-SV pipeline to detect structural variants in coding and non-coding regions with high accuracy. Combining structural variant detection with 3D genome conformation data will improve insights into the impact variants have on gene and cellular function. Ultimately, these insights will aid scientists in elucidating novel disease mechanisms and identifying therapeutic targets.
“FFPE samples have posed real challenges for translational researchers. In developing these new products, we hope to provide our customers with a solution that yields new insights into FFPE samples and the role of structural variants in human health and disease.”
– Ibrahim Jivanjee, Director of Product Management + Marketing
Early Customer Successes
Our early access and beta-testing programs have already yielded exciting findings from our customers and collaborators; some of these findings were highlighted in a recent webinar by Anthony Schmitt, PhD, SVP of Science at Arima Genomics, and Lukas Chaves, PhD of UCSD, who studies the effects of SVs on the gene regulatory landscape of pediatric brain tumor genomes: Structural Variants as Genomic Drivers of Human Disease: From Discovery to Therapy.
Although these new tools have utility across a wide range of translational research areas, including immunology and neuroscience, oncology research is a key focus for this application. For example, work by Chavez, and Matija Snuderl, MD, of NYU Langone Medical Center have shown how structural variants impact the regulation of cancer genes in novel ways by altering 3D genome organization.
“Using Arima Hi-C technology and the new FFPE sample preparation method and bioinformatics tools, we’ve been widely successful in detecting structural variants in a variety of tumor samples. We are hopeful that additional insights gained with this approach will lead to improved understanding of disease mechanisms and, ultimately, the development of new therapeutic options for people with cancer.”
– Matija Snuderl, MD, Director of Molecular Pathology and Diagnostics, NYU Langone Medical Center
End-to-End Solution for Structural Variant Detection
Our new workflow enables the detection and discovery of structural variants in a broad range of starting sample types, including FFPE tissue, fresh/frozen tissue, blood, and cell culture samples using either our Arima-HiC+ FFPE Kit or standard Arima-HiC+ for genome-wide chromatin conformation capture. In addition, the Arima-SV pipeline incorporates the critical Hi-C analysis tools, including HiC Breakfinder, Juicer, and HiCUP, into a portable and scalable bioinformatics workflow that is easy to install and run.
“Combining our robust and reliable Hi-C technology with the efficient and easy-to-use bioinformatics pipeline for SV detection will enable our customers to gain deeper insights from their sequencing data.”
– Anthony Schmitt, PhD, SVP Science
Learn More and Get Started
Explore our Application Note and resource page to learn more about detecting structural variants with Arima Hi-C technology. Additional information about Arima-HiC+ FFPE kit can be found in our Product Flyer: Arima-HiC+ FFPE and resource page, and the bioinformatic pipeline is accessible on GitHub – Arima-SV. All technical documentation, including User Guides, can be accessed on our Documentation page.
Ready to start using these products in your research? Reach out to discuss your next Hi-C project with an Arima Scientist.