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PacBio unveils gene panel for neurological disease study

EditorEmilio Ghigini
Published 03/12/2024, 09:14 AM
Updated 03/12/2024, 09:14 AM
© Reuters.

MENLO PARK, Calif. - Pacific Biosciences (NASDAQ:PACB) of California, Inc. (NASDAQ: PACB), known as PacBio, has announced the launch of its PureTarget repeat expansion panel, a sequencing solution aimed at analyzing 20 genes linked to neurological disorders. The panel, which is expected to begin shipping on March 25, 2024, targets genes associated with conditions such as Huntington's disease and ALS.

The PureTarget panel leverages high-fidelity (HiFi) sequencing technology to target repeat expansions, which are challenging to sequence and are known to cause various neurological diseases. According to PacBio's CEO, Christian Henry, this product will enable comprehensive characterization of germline and somatic variations in tandem repeats, which can cause many neurological conditions.

The panel is designed to retain methylation signatures, allowing researchers to avoid running separate assays and providing a complete picture of disease genes like FMR1.

PacBio's new offering is expected to streamline workflows and reduce turnaround times for identifying disease-causing variants. The panel can be used with the company's Revio and Sequel IIe sequencing systems, allowing for the multiplexing of multiple samples. The company also provides data analysis tools for genotyping, which are driven by Tandem Repeat Genotyping Tools (TRGT).

The announcement has been met with enthusiasm from the research community. Associate Professor Alice Davidson from University College London expressed excitement over the new kit, highlighting its low DNA input requirements and high read depth output, which have enabled her team to uncover new levels of repeat mosaicism and instability in affected cell populations.

PacBio, which focuses on resolving genetically complex problems through advanced sequencing solutions, emphasizes that its products are intended for research use only, not for diagnostic procedures. The information for this article is based on a press release statement.

This article was generated with the support of AI and reviewed by an editor. For more information see our T&C.

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