PacBio and Twist Bioscience Deliver Initial Portfolio of Target Enrichment Panels for HiFi Sequencing

A leading developer of high-quality, highly accurate sequencing solutions, and Twist Bioscience Corporation, a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon platform, today announced the availability of an initial portfolio of off-the-shelf long-read gene panels. These fixed Twist Alliance panels are designed to capture target regions in a cost-effective and high throughput manner. Customers will also have the ability to develop a fully customizable and scalable panel of their own design 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 Chief Executive Officer 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.”

“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, Ph.D., 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.”

PacBio and Twist collaborated with researchers at leading institutions to develop two Alliance panels. One panel includes coverage of nearly 400 challenging medically relevant genes, and another was designed to capture 50 pharmacogenomic genes. Many of the challenging genes are in so-called “dark regions” of the human genome that are difficult to sequence or accurately map using standard short-read sequencing technologies. The dark gene panel was developed with researchers at a leading institution to interrogate and detect nearly 400 hard-to-sequence genes of medical significance, such as SMN1 and SMN2, GBA, and LPA, which are associated with Spinal Muscular Atrophy, Alzheimer’s, and cardiovascular disease, respectively. The pharmacogenomics panel includes genes with high levels of evidence for implementation of prescribing guidelines.

In addition to the new capabilities provided by the long-read panels, PacBio is also collaborating with Twist to demonstrate the high level of accuracy that can be achieved using sequencing by binding (SBB) chemistry. 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.