Pacific Biosciences of California, Inc. 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. High-throughput bioinformatics software applications that are optimized 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.