When a prominent scientific society stages an annual meeting, you can expect that the meeting’s conference program and exhibit hall will attract a number of relevant companies. Moreover, the meeting will prove a convenient occasion for these companies to highlight some timely developments. Well, the annual meeting of the American Society of Human Genetics (ASHG) is no exception.

Here at GEN, we’ve noticed that several companies we’ve covered recently are making their presence felt at the current ASHG meeting. These companies include NanoString Technologies, Quantum-Si, and Ultima Genomics.

NanoString Technologies

NanoString, a spatial biology company, says that it offers an “ecosystem of innovative discovery and translational research solutions, empowering its customers to map the universe of biology.” More details about NanoString can be found on the GEN website’s NanoString archive. For example, the company has been discussed in several GEN articles on spatial biology. Also, we presented an interview with Joseph M. Beechem, PhD, NanoString’s chief scientific officer.

At ASHG, NanoString will be at booth 1523. Also, the company will present an educational session (“In-depth, sub-cellular and ligand-receptor maps from the Spatial Atlas of Human Anatomy (SAHA) Project”) and four posters (each will describe applications driven by one of NanoString’s platforms). One of the three NanoString speakers at the event will be none other than Beecham.

On the NanoString website, a few details about the company’s educational session are provided: “The goal [of the SAHA initiative] is to create a comprehensive open source, spatial reference standard that can be accessed by researchers around the globe to advance our knowledge of spatial biology. NanoString offers a comprehensive set of spatial solutions, including the CosMx™ Spatial Molecular Imager (SMI) for single-cell spatial imaging (which identifies rare cell types and captures cell-cell interactions) and the GeoMx® Digital Spatial Profiler (DSP) tissue biology–driven whole transcriptome profiling for large translational studies. The AtoMx™ Spatial Informatics Platform (SIP) solves the challenge of managing large spatial datasets with an open, cost-effective, cloud-based informatics solution.

Quantum-Si

Quantum-Si, which calls itself the Protein Sequencing Company, has a suite of technologies that is focused on “revolutionizing proteomics.” Fundamental to the company’s technology is a semiconductor chip designed to “enable next-generation single-molecule protein sequencing and digitize proteomic research in order to advance drug discovery and diagnostics beyond what has been possible with DNA sequencing.”

More details about Quantum-Si can be found on the GEN website’s Quantum-Si archive, which highlights articles posted in 2023. For a slightly deeper dive, go back to a 2021 GEN Edge profile of Jonathan Rothberg, PhD, Quantum-Si’s founder. In the profile (“Rothberg Returns: Quantum-Si Aims to Turn Proteomics Digital”), Rothberg is quoted as follows: “What we use is time. The beautiful thing is chips are exquisitely accurate at measuring time, so we can differentiate between the different amino acids. We can even differentiate between modified amino acids. When you’re doing drug development for a large pharmaceutical company, you want to know which proteins are modified and we can see those modifications.”

ASHG, Quantum-Si will be at booth 115, showcasing its next-generation benchtop protein sequencing instrument, Platinum™, and sharing its vision for the transformation of genomics and proteomics research. Quantum-Si’s chief commercial officer, Grace Johnston, PhD, and chief executive officer, Jeff Hawkins, will be available to discuss the company’s technology and the vital significance of next-generation protein sequencing and proteomics.

Additionally, on Thursday, November 2, at 4:30 p.m., Quantum-Si scientists will present: Unleashing Next-Generation Protein Sequencing™ with Platinum™: How it will Transform Genomics and Proteomics Research.

Ultima Genomics

Ultima Genomics, a developer of an innovative new ultra-high-throughput sequencing architecture, has attracted a lot of attention since the company released the UG100 platform. According to bioRxiv preprint by the company’s scientists, the UG100 is a “massively parallel novel sequencing platform that combines an open flow cell design on a circular wafer with a large surface area and mostly natural nucleotides that allow optical end-point detection without reversible terminators.”

The flow cell harbors a dense array of sequencing beads, and when it spins, reagents dispensed near its center are spread over its surface by centrifugal force. Then, optical scanning of the rotating surface is performed continuously, in a process analogous to that used for reading a compact disk.

For more details about the UG100 and Ultima Genomics, visit the GEN website’s Ultima Genomics archive. In particular, check out a recent profile that presents extensive remarks by Ultima’s CEO, Gilad Almogy, PhD. For example, he elaborated on the company’s motto, which is, “Unleash the power of genomics at scale.”

“I haven’t yet come across any field where people don’t want more data,” Almogy said. “Every [person] will have a whole genome sequence—that’s a given.” But, he added, that’s someone’s germline—the DNA sequence they’re born with—not how it’s changing. What is happening to your mutation profile or methylation profile—that’s not static. And that data, Almogy stressed, will become a bigger and bigger part of healthcare.

At ASHG, Ultima will be at booth 1823, and it will present an Industry Education Session talk entitled, “Empowering Genomics at Scale.” The company will also present, along with several early access customers, new data across a range of different applications.

Sen Zhao of Baylor College of Medicine will present data generated at Baylor using a UG100 early access instrument in a talk entitled “Clinical utility of deep-RNAseq in Mendelian disorder diagnostics,” demonstrating how ultra-deep whole transcriptome sequencing of clinical samples reveals isoforms and alternative splicing patterns beyond what is normally seen with the current standard sequencing depth.

Betty Liu of the Greenleaf lab at Stanford University will highlight the use of Ultima’s technology to perform a systematic investigation of the effects of varying transcription factor (TF) levels on accessibility and gene expression using high-throughput ATAC-seq.

Watchmaker Genomics will demonstrate gene fusion detection via cost-effective whole transcriptome sequencing using the optimized Watchmaker RNA Library prep kit.

Ultima will present improvements in germline short variant and copy number variant calling from whole genome sequencing, demonstrating that its sequencing methodology provides a robust and cost-effective method that holds promise for both research and clinical applications. In collaboration with Variantyx, these methods are applied to whole genome sequencing of clinical samples to demonstrate accurate detection of common pathogenic clinical variants.

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