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The Arima team was pleased to attend the American Society for Human Genetics annual meeting in Los Angeles on October 25-29th. The conference was packed with exciting announcements, innovative research, and passionate scientists. In addition, it was wonderful to connect with our customers and share the latest products and data with those new to the Arima community.

Exhibit Highlights: 3D Genomics for Human Health and Disease Research

At our booth, we showcased the benefits of 3D genomics in helping researchers gain unparalleled access to the sequence, structure, and regulatory landscape of the human genome. Whether looking to assess GWAS variants to understand disease mechanisms, identify novel biomarkers, or establish new drug targets – 3D genomics provides informative insights for basic and translational researchers.

Andrew Kao greets visitors at the Arima Genomics booth at ASHG 2022 in Los Angeles.

Poster Presentations

We were honored to visit and learn from 35 of our customers presenting their research at ASHG on topics ranging from Alzheimer’s to thrombosis and rare diseases. Additionally, two Arima scientists presented posters.

Uncovering Gene Fusions with 3D Genomics: From Clinical Validation to Actionable Insights for Undiagnosable Solid Tumors

Anthony Schmitt presenting his poster at ASHG.

Anthony Schmitt, Ph.D., Arima’s SVP of Science, presented this ASHG reviewers’ choice poster featuring data from our collaboration with researchers from New York University. The data highlighted the pan-cancer profiling study of 164 samples representing 13 tumor types using Arima HiC+ FFPE and custom Capture-HiC+ kits. The data presented in the poster demonstrates that 3D genomics:

  • Is concordant with NYU Fusion SEQ’er, a CLIA-validated RNA-based fusion panel.
  • Identifies clinically actionable biomarkers in 53% of driver-negative tumors.
  • Has identified previously undetected fusions, leading to changes in patient management, in a limited number of prospective cases.
  • Detects “proximal fusions” with breakpoints outside the cancer gene body, which may lead to activation of druggable targets or diagnostic biomarkers such as NTRK1 and PLAG1, respectively.

Download the poster

3D Genomics with Arima Hi-C Sequencing Enables Detection of Clinically Relevant Gene Fusions in Pediatric Cancer Samples

Kristin Sikkink presents her poster at ASHG.

Kristin Sikkink, Ph.D., Senior Scientist at Arima, presented research conducted in partnership with Midhat Farooq, MD, Ph.D., and Atif Ahmed, MD, at Children’s Mercy Kansas City, which described using 3D genomics to detect clinically actionable gene fusions in pediatric cancer samples preserved in formalin-fixed paraffin-embedded (FFPE) tissue samples. The data presented in the poster showed that:

  • Arima technology provides molecular diagnostic value in archived pediatric solid and liquid tumor specimens by identifying clinically relevant gene fusions.
  • Targeted 3D genomic approaches in the form of cancer gene panels can be used to identify structural variants in cases with no previously detected genetic driver.
  • The information gained from 3D genomic interrogation of FFPE samples can provide diagnostic, prognostic, and therapeutic insights for pediatric cancer.

Download the poster

CoLab Session

A New Frontier for Discovery – How 3D Genomics Reveals Novel Disease Mechanisms and Therapeutic Targets Missed by Other Technologies

In this session, Kristin Sikkink, Ph.D., Senior Scientist at Arima Genomics, shared product updates and examples of how 3D genomics reveals new understanding of genome organization and function, enabes advanced exploration of disease mechanisms and informs interpretation of disease risk variants from GWAS studies. Notably, she highlighted these examples of how our customers are using 3D genomics:

  • To explore gene regulation associated with T-cell acute lymphoblastic leukemia
  • As part of a multi-omics approach to understanding the human retina
  • By taking a single-cell approach to map chromatin conformation in the developing human frontal cortex and hippocampus
  • How detection of structural variants and gene fusions with Arima technology is enabling cancer researchers

Kristin Sikkink engages with the audience at her CoLab session.

Connecting with so many scientists at the forefront of human genetics was fantastic. We look forward to many more years of attending and participating in this outstanding conference.

Learn more about Arima technology and contact us to explore how you can get started with 3D genomics in human genetics research.