PacBio, a developer of highly accurate sequencing solutions, announced a collaboration with the University of Tokyo, Graduate School of Medicine, to study the use of long-read sequencing and novel bioinformatics methods in the hopes of better understanding the genetic causes of certain rare diseases in individuals and cohorts within the Japanese population.
Key highlights:
- PacBio is collaborating with the University of Tokyo to develop understanding of the genetic causes of rare diseases within the Japanese population.
- Combining bioinformatics software with PacBio's HiFi long thread sequencing data, disease-associated variants can be uncovered more effectively.
"Through this collaboration with the University of Tokyo, we plan on developing and applying new methods in the hopes of identifying genetic mutations of many diseases impacting the Japanese population. This will help improve our understanding of difficult genetic regions and variants that we hope will benefit the Japanese population," said Michael Eberle, vice president of Computational Biology at PacBio.
High-throughput bioinformatics software applications that are optimised for PacBio HiFi long-read sequencing data, such as the Tandem Repeat Genotyping Tool (TRGT), are designed to enable researchers in Japan and the international community to more effectively uncover disease-associated variants, including structural variants such as tandem repeats.
PacBio has worked with University of Tokyo researchers for years and has assisted their work around sequencing hundreds of human genomes and structural variants associated with neurological disorders and leukemia (some of this research was published in Nature Genetics in 2018 and 2019 and in Oxford Bioinformatics in 2016).
"Collaborating with PacBio in applying advanced bioinformatics workflows should accelerate our in-progress work characterising structural variants and making these findings more accessible to the broader scientific community. We believe this collaboration will complement our previous work and help us identify many more disease-causing structural variations in the human genome," said Dr. Shoji Tsuji, a senior investigator for the University of Tokyo Hospital, Department of Neurology.