Benzinga | Aug 3, 2020 08:11AM EDT

Pacific Biosciences And Asuragen Collaborate To Develop Assays For Carrier Screening And Other Applications Based On SMRT Sequencing Technology And AmplideX PCR Chemistry

Joint research effort will lead to molecular assays that can improve variant detection and access difficult-to-sequence regions of the human genome

Pacific Biosciences of California, Inc. (NASDAQ:PACB), a leading provider of high-quality sequencing of genomes, transcriptomes and epigenomes, and Asuragen, a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced their clinical research collaboration aimed at developing molecular assays based on PacBio's Single Molecule, Real-Time (SMRT(r)) Sequencing technology. The initial focus of the collaboration will be on research in support of assay development for the carrier screening market.

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Several of the most common carrier genes for autosomal recessive and X-linked conditions are either technically challenging or inaccessible to amplify and sequence, leading to incomplete coverage and convoluted workflows spread over multiple platforms. Through this collaboration, Asuragen scientists will develop assays that combine the company's AmplideX PCR technology for enriching hard-to-amplify sequences with PacBio SMRT Sequencing, a highly accurate long-read sequencing platform with a unique ability to represent all regions of the genome and to detect any kind of structural or other variation.

"Innovative amplification and sequencing technologies have each been instrumental in discovering and characterizing challenging disease-causing structural variants, such as indels, copy number changes, and repeat expansions," said Gary J. Latham, PhD, Senior Vice President of Research and Development at Asuragen. "We are excited to work with PacBio to combine the best of both technologies to build assays that can uniformly resolve simple and complex forms of genetic variation for research and clinical applications."

Scientists at Asuragen will develop assays for PacBio's Sequel Systems using Asuragen's AmplideX(r) PCR technology. AmplideX products are designed to solve testing needs in inherited genetic disorders through easy-to-run assays and optimized workflows that deliver best-in-class performance. Assays will make use of PacBio's HiFi long reads, an approach incorporating multiple passes of the same molecule to create a highly accurate consensus sequence.

"We are honored to partner with Asuragen, a leader in molecular diagnostics, to apply the unique value of SMRT Sequencing for clinical research," said Jonas Korlach, PhD, Chief Scientific Officer of Pacific Biosciences. "Scientists have shown that PacBio's long-read sequencing systems offer a high-resolution view of the human genome that is simply not possible with any other sequencing technology. We look forward to working with Asuragen to design assays capable of interrogating challenging genomic regions and identifying the full breadth of natural human genetic variation."