HiFi Long-Read Sequencing Panel Supports Comprehensive Analysis of 20 Genes Associated With Neurological Disease


PureTarget kit. (Credit: PR Newswire/ Pacific Biosciences of California, Inc.)

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced the PureTarget repeat expansion panel, a new solution designed to enable the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions.

The new long-read workflow can minimize iterative analysis using legacy technology, and reduce the time needed to identify disease-causing variants and associated methylation signatures.

“HiFi sequencing is uniquely capable of comprehensively characterizing the germline and somatic variation of tandem repeats1 which cause dozens of neurological diseases.2 Our new PureTarget repeat expansion panel is designed to target these repeat expansions to help our customers understand the underpinnings of tandem repeats,” said Christian Henry, President and Chief Executive Officer of PacBio.

“This product uses a differentiated method to do targeted long-read sequencing of DNA in its pure state. PureTarget libraries retain methylation signatures, which saves our customers from having to run a separate assay while providing a complete picture for disease genes like FMR1. With a simplified workflow and fast turnaround time, we believe this panel could bring PacBio an increased commercial opportunity in the form of tens of thousands of samples in the world’s largest laboratories.”

Targeted sequencing is an ideal method for researchers and commercial laboratories looking to cost-effectively study and analyze the role of specific genes and gene variants. The 20 genes that comprise the PureTarget repeat expansion panel are implicated in a wide range of debilitating neurological diseases that afflict children and adults including ataxia, Huntington’s disease, myotonic dystrophy, amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Fragile-X disease.

“This new kit has opened up really exciting opportunities for our research program focused on repeat expansions and inherited eye disease,” said Alice Davidson, Associate Professor at University College London. “The relatively lower DNA input requirements, coupled with high read depth output, has allowed us to uncover levels of repeat mosaicism and instability at our repeat locus of interest with affected cell populations.”

Source: Company Press Release