News Releases & Research Results Development of a method to elucidate complex genomic rearrangements using a new technology, long-read sequencer

The results of collaborative research and development conducted by Assistant Professor Satomi Mitsuhashi (currently, Associate Professor of the Medical Research Institute, Tokyo Medical and Dental University), Dr. Sachiko Ohori, and Professor Naomichi Matsumoto of the Department of Human Genetics, Yokohama City University Graduate School of Medicine, Senior Researcher Martin Frith of the Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology, and Associate Professor Kazutaka Katoh of the Genome Information Research Center, Department of Genome Informatics, Research Institute for Microbial Diseases, Osaka University.

• A new data analysis method was developed using a long-read sequencer which can read a DNA sequence consisting of 10,000 or more consecutive bases, thereby allowing rapid and efficient detection of complex genomic abnormalities.
• Specifically, the entire structure of chromosomal disruption (chromothripsis), i.e., complex intertwined genomic rearrangements, was revealed.
• The results of this R&D project should facilitate the elucidation of complex genomic rearrangements and inherited disease pathologies.

This program was conducted with the support of the Practical Research Project for Rare/Intractable Diseases by AMED.

The results were published online in Genome Medicine on July 31.

Mitsuhashi M., et al. A pipeline for complete characterization of complex germline rearrangements from long DNA reads Genome Medicine
DOI：10.1186/s13073-020-00762-1