教授 / Professor
松本 直通 (Naomichi Matsumoto)





次世代シーケンス技術は、100~200 bp程度の短いシーケンスを大量に算出して、参照配列にマップし、参照配列との違いから変異を同定することができます。この技術でこれまで未解明の症例の約1/3で原因が判明するようになり、これ自体は大変画期的なことでした。

近年、従来型の短いシーケンスを産出するタイプとは異なる、10 kb以上の長いシーケンスを1分子で読む新しいタイプのロングリード型次世代シーケンサーが開発されました。この新しい技術でショートリードタイプの解析では難しかった複雑領域の解析が可能となりました。現在、我々の研究室ではこのロングリード型次世代シーケンサーを駆使して遺伝性疾患の解明に取り組んでいます。



Welcome to the website of the Department of Genetics, Yokohama City University Graduate School of Medicine. Our Department of Genetics was established on October 1, 2003. Since then, we have focused on advanced human genome analysis and the elucidation of the causes of hereditary diseases, and have developed various technologies and applied them to the search for the causes of unidentified diseases, achieving many world-leading results. In the early 2000s, we were conducting research using positional cloning, which is a very time-consuming method, to identify the cause of rare diseases by analyzing the genomic structural abnormalities associated with chromosomal abnormalities. At that time, it was an idyllic time when the cause of one disease was revealed every two to three years in my laboratory. Later, microarrays that comprehensively analyze the entire genome were introduced, and exploratory methods began to be used to search for potential structural abnormalities in the genome and to search for the cause of diseases in genes related to the structurally abnormal regions. With the advent of next-generation sequencing technology, it has become possible to comprehensively decipher all genes and the entire genome, and to comprehensively search for causative gene variants based on differences from the reference sequences. Next-generation sequencing technology is capable of calculating a large number of short sequences of about 100-200 bp, mapping them to reference sequences, and identifying pathogenic variants based on differences with the reference sequences. With this technology, the cause of the disease has been identified in about 1/3 of the previously unexplained cases, which was a great breakthrough in itself. On the other hand, the remaining two-thirds of cases have remained unexplained. In recent years, a new type of long read next-generation sequencer has been developed that can read a single DNA molecule longer than 10 kb, which is different from the conventional type that only produces short sequences. This new technology enables us to analyze complex regions that were difficult to analyze with the short-read type. Currently, our laboratory is working on the elucidation of genetic diseases using this long read next-generation sequencer. Why don’t you join us in our efforts to solve unexplained diseases?