European Research Initiative Adopts PacBio Sequel II System to Solve Rare Diseases
Thursday, September 5, 2019
Around the world, some 350 million people have a rare disease1. The vast majority of these diseases have a genetic cause, but many have not yet been linked to the specific genetic deleterious element(s) responsible for the disease. The SOLVE-RD research program, a consortium of >20 institutions funded with a five-year, €15 million award from the European Union’s Horizon 2020 initiative, aims to improve the diagnosis and treatment of rare diseases by applying novel tools to cases that were not solved with short-read exome sequencing.
“Even with exome sequencing, as many as 50% of rare disease cases remain unsolved,” said Alexander Hoischen, Associate Professor for Genomic Technologies and Immuno-Genomics and a member of the SOLVE-RD team, at
Structural variants are increasingly being recognized as the cause of many rare diseases, but these large genomic elements are often undetectable with short-read sequencing tools due to their length and repetitive content. Structural variation affects more base pairs of the human genome than single nucleotide variants and small insertions and deletions combined. With its extraordinarily long reads, SMRT Sequencing detects structural variants with high precision and recall, even at low coverage.
“SMRT Sequencing has already helped scientists untangle previously unsolvable cases of rare disease, and we believe it will provide exciting new answers for many of the medical mysteries targeted by this program,” said
Alexander Hoischen will speak more about this project and long-read sequencing at this week’s
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All statements in this press release that are not historical are forward-looking statements, including, among other things, statements relating to the attributes of the Sequel II System, the future availability, uses, accuracy, quality or performance of, or benefits of using, products or technologies, the suitability or utility of methods, products or technologies for particular applications, studies or projects, the importance of long-read sequencing data, the expected benefits of the SOLVE-RD research program or other sequencing projects, and other future events. You should not place undue reliance on forward-looking statements because they involve known and unknown risks, uncertainties, changes in circumstances and other factors that are, in some cases, beyond Pacific Biosciences’ control and could cause actual results to differ materially from the information expressed or implied by forward-looking statements made in this press release. Factors that could materially affect actual results can be found in Pacific Biosciences’ most recent filings with the Securities and Exchange Commission, including Pacific Biosciences’ most recent reports on Forms 8-K, 10-K and 10-Q, and include those listed under the caption “Risk Factors.” Pacific Biosciences undertakes no obligation to revise or update information in this press release to reflect events or circumstances in the future, even if new information becomes available.
Source: Pacific Biosciences of California, Inc.