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  • Highlights from ASHG 2023 – Part II

    Welcome to the second part of our comprehensive review of ASHG 2023. While the cutting-edge research presented at the event is vital, keeping up with the latest technological advancements and updates from our tech providers is equally important. In this segment, we review the key highlights and notable developments from the exhibitors.

    General Updates

    Genomenon released Mastermind 3.0, marking a significant step in curating the human genome by fully organizing the clinical exome at the gene level, based on ClinGen guidelines. This update enhances the Mastermind Platform, offering over 9,000 gene-disease relationships and supporting clinical labs in handling increased testing volume and complexity.

    Yourgene Health
    Immediately after the meeting, Yourgene Health announced the installation of the first IONA® NIPT workflow in Morocco at Laboriad, enabling local, fast, and reliable prenatal screening for trisomies and fetal sex determination, enhancing regional access.

    Quantum-Si showcased their Platinum™ benchtop protein sequencing instrument. The team discussed their goals to transform genomics and proteomics research with their innovative semiconductor chip technology. This was part of the trend of proteomics work being presented at the meeting.

    SomaLogic launched the SomaScan 11K Platform, providing 11,000 protein measurements to aid in biomarker discovery and drug target identification for translational medicine. The company explained that this platform offers enhanced accuracy and a broader view of the human proteome, aiding research in various fields including nervous tissue and brain studies.

    At ASHG, Bionano presented its optical genome mapping (OGM) utility in diverse genetic research areas, including neurodevelopmental and prenatal applications. They hosted several sessions with experts discussing OGM's role in advancing genetic disorder research, supported by twelve scientific posters and several platform presentations.

    Sequencing Spotlight
    As a community deeply rooted in sequencing, much of our primary interest has been in the companies developing sequencing instruments and providing essential supplies.

    Oxford Nanopore Technologies (ONT)
    At the meeting, ONT showcased their TurBot platform for parallel sample processing, which offers extraction, library preparation, and sequencing in one device. They also focused on enabling genetic analysis for disease research using their EPI2ME analysis software. Additionally, Fabric Genomics announced partnerships with ONT and DNAnexus, focusing on neonatal/pediatric genetic analysis and integrating genomic tools with cloud-based data management for clinical genome data analysis.

    Element Biosciences
    Element Biosciences presented novel data in oncology and immunology from their AVITI platform, while emphasizing its high-accuracy sequencing for rare genetic diseases. The company also shared innovative research in trio sequencing and hosted a workshop on enhancing variant detection accuracy.

    Complete Genomics
    Less than a year since launching in the U.S., Complete Genomics announced significant commercial and technical traction in the sequencing market through new customers, partnerships, and collaborations, noting that their T7 model orders constitute a large fraction of North American sales. The group is currently working on manufacturing facilities and the launch of the DNBSEQ-T20 in the U.S.

    Singular Genomics
    Singular Genomics presented new additions for their G4 platform, featuring PIP-seq single-cell RNA sequencing compatibility, ultra-low diversity sequencing capabilities, and the commencement of shipping for their latest F3 flow cell.

    Illumina started shipping out their 25B flow cells for the NovaSeq X during the week of the conference. While that announcement wasn’t officially part of ASHG, data from these flow cells were released and displayed during the meeting. The company is also planning to release the P4 flow cell for the NextSeq 1000 and 2000 platforms in the near future along with an anticipated enrichment kit for their synthetic long-read technology. Illumina representatives also engaged in various talks and presentations, including a discussion on diversity in genomics and a custom array for studying asthma and allergic diseases.

    Ultima Genomics
    Although Ultima maintained a low profile at this year’s AGBT, during ASHG they showcased the impressive advancements of their UG100 instrument, revealing new benchmarking data that highlighted significant enhancements to their sequencing platform. Some early-access customers also presented the advantages of the instrument for applications like ATAC-Seq and deep-RNA sequencing. Ultima suggested an official instrument launch near the end of the year, and with a gold sponsorship at AGBT, we can expect a big announcement around the February event.

    Pacific Biosciences (PacBio)
    PacBio made a memorable impact at the event, not only by hosting a concert featuring Grammy-winning artist Macklemore but also through several announcements. They announced new partnerships with Geneyx and Golden Helix, integrating tertiary analysis into PacBio Compatible for advanced HiFi data application in rare disease research. Furthermore, they launched their Kinnex RNA kits to boost throughput in various RNA sequencing applications, facilitating comprehensive long-read RNA studies. Lastly, PacBio introduced the HiFi Solves consortium, collaborating with 15 global research institutions across 11 countries to advance clinical genomics research and deepen understanding of genetic diseases through HiFi sequencing.

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