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PacBio, Asuragen Collaborate on Carrier Screening Assays

By Diagnostics World Staff

August 11, 2020 | Pacific Biosciences and Asuragen have launched a clinical research collaboration aimed at developing molecular assays based on PacBio’s Single Molecule, Real-Time (SMRT) Sequencing technology. The initial focus of the collaboration will be on research in support of assay development for the carrier screening market.

PacBio’s long read sequencing technology has most frequently been applied to microbial or plant and animal sequencing, but new advances—the Sequel II platform and HiFi mid-length reads—have gained the company new ground in human biomedical sequencing. After an abandoned merger with Illumina earlier this year, PacBio has expressed interest in turning its attention to the diagnostics market. Last month, Luke Hickey, Senior Director of Strategic Marketing, told Bio-IT World that he sees clinical utility in Sequel II’s future.

This research collaboration is a step in that direction.

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 technology 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 in a announcement. “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 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, CSO of Pacific Biosciences in the same statement. “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 detecting all variant types.”

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