PacBio’s Sequel
Credit: PacBio

Sequencing company PacBio, and synthetic DNA company Twist Bioscience announced today the launch of a line of high-throughput long-read gene panels. The initial offering of panels, sold under the Twist Alliance name, are designed to capture target regions of the genome, and also offer customers the ability to custom design panels based on their specific research needs for sequencing with PacBio HiFi reads.

“Our customers have been asking for a way to focus their long-read experiments and maximize throughput,” said Christian Henry, president and CEO of PacBio. “Through this collaboration with Twist we have developed off-the-shelf products that we believe have delivered on that capability. Collaborations like this help us quickly bring new solutions to our customers and advance our mission to enable the promise of genomics to better human health.”

The initial offering of the collaboration will be two panels: a 50-gene pharmacogenomics panel and a panel that includes nearly 400 medically relevant, but challenging genes in the so-called “dark” genome. Both PacBio and Twist worked with researchers are research institutions to help identify their needs and the focus the new Twist Alliance panels.

The larger panel focuses on medically relevant, hard to sequence regions of the genome and includes the SMN1 and SMN2, GBA, and LPA genes, which are known to be associated with Spinal Muscular Atrophy, Alzheimer’s, and cardiovascular disease, respectively. The pharmacogenomics panel focuses on genes have shown high levels of evidence for use in prescribing medications.

“These panels developed with PacBio enable customers to sequence regions of the genome that can help researchers study the role of genetics in drug response and uncover regions that are difficult to read, such as ‘dark genes’ and genes associated with neurodegenerative and cardiovascular diseases. Providing scientists with NGS tools enables them to further their research and gain a better understanding of the role that certain genes play in diseases, which could one day be translated to breakthroughs for patients,” said Emily M. Leproust, PhD, CEO and co-founder of Twist Bioscience. “While these are long-read panels, Twist Alliance panels are developed in partnership with experts in their field to further research and can be made to be compatible with any sequencing technology.”

While the current release focuses on PacBio’s strength in long-read sequencing, the companies also announced that they are working together to demonstrate the accuracy and capabilities of sequencing by binding (SBB) chemistry. The SBB technology was acquired by PacBio in its $800 million acquisition of short-read sequencing company Omniome. SBB has been touted for its low error rates compared with existing short-read methods and promises to be well suited for work in oncology. In addition to its work with Twist, PacBio also has an ongoing oncology collaboration with Invitae leveraging SBB.

As noted in today’s press release: “By nature, SBB excels at correctly resolving homopolymer runs and repetitive regions. When applied to whole-exome sequencing, it has the potential to provide the most complete coverage of both uncomplicated and traditionally difficult to sequence genes which could streamline workflows by reducing the need for orthogonal assays.”

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