PacBio, Asuragen Collaborate on Carrier Screening Test Development

Long-read sequencing company Pacific Biosciences (PacBio) and molecular diagnostics developer Asuragen have announced a clinical research collaboration to developing tests for carrier screening leveraging PacBio’s Single Molecule, Real-Time (SMRT) Sequencing technology.

According to the companies, the SMRT technology will help improve variant detection as most common carrier genes for autosomal recessive and X-linked conditions are either technically challenging or inaccessible to amplify and sequence via a single technology.

“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,” says Gary J. Latham, Ph.D., SVP of research and development at Asuragen in a press release. “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.”

Asuragen will leverage its AmplideX PCR technology for enriching hard-to-amplify sequences with PacBio SMRT Sequencing to develop tests to be run on PacBio’s Sequel Systems. The AmplideX line targets testing in inherited genetic disorders. Newly developed 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, Ph.D., CSO of Pacific Biosciences in a prepared 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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