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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Source: Pacific Biosciences of California, Inc.