Arima Genomics, Inc., the leader in 3D genomics, today announced the launch of new solutions for structural variant detection and gene regulation analysis. These solutions enhance the company’s market-leading portfolio of 3D genomics tools that help researchers unlock new insights for disease research.

The new Arima-HiC+ FFPE sample preparation kit expands the utility of the Arima-HiC+ workflow to formalin-fixed, paraffin-embedded (FFPE) tissues – a critical archival and clinically relevant sample type. In addition, the new Arima-SV bioinformatics pipeline enables researchers to identify structural variants from their 3D genomic data from a broad range of sample types.

Structural variants are associated with various genetic disorders and have broad impacts on human health and disease progression. A human genome contains more than 20,000 structural variants¹, which can include inversions, deletions, translocations, and duplications. In addition, structural variants play a significant role in tumorigenesis, with findings from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium demonstrating that more than 95% of cancers contain at least one characteristic structural variant².

By leveraging the Arima-HiC+ FFPE kit and the Arima-SV pipeline, researchers using FFPE tissue samples and short-read sequencing now have a robust workflow to identify structural variants to elucidate connections among the 3D genome, gene function, and disease processes. These tools are relevant across a wide range translational research areas including cancer, blood and neurological disorders, and immune diseases, where FFPE tissues are a critical archival and clinical sample type.

“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,” said Matija Snuderl, MD, Director of Molecular Pathology and Diagnostics, NYU Langone Medical Center. “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.”

“We take pride in partnering with our customers to power impactful research into the relationships between the 3D genome and human health. We are pleased to offer these advanced solutions for structural variant identification,” said Anthony Schmitt, SVP, Science, at Arima Genomics. “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.”

Learn more about the Arima-HiC+ FFPE product and structural variant detection application from Arima Genomics.

About Arima Genomics

Arima Genomics, Inc. is advancing life sciences research through the power of 3D genomics by providing unparalleled access to the sequence and structure of any genome. Arima Genomics offers the most advanced technologies for preserving the structural organization of the genome to drive discovery in genome biology and human health. To learn more, visit www.arimagenomics.com and connect with us on Twitter, LinkedIn, and YouTube.

¹Chaisson, M.J.P., et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun 10, 1784 (2019).

²Li, Y., et al. Patterns of somatic structural variation in human cancer genomes. Nature 578, 112–121 (2020).

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