ToMMo has completed a total of 69,000 individuals the whole genome sequence analysis of the general Japanese population. These are from our cohort studies of more than 150,000 participants and are one of the world's largest-scale whole genome analyses of a general population. Based on the analysis data of 54,000 of these 69,000 individuals, the Japanese whole-genome reference panel 54KJPN is now released on June 26, 2023, on the jMorp (Japanese Multi Omics Reference Panel).

Details on the data available

Whole Genome Information of 69,000 people

ToMMo has been analyzing DNA provided by the individuals who are participants in the cohort studies conducted as part of the Tohoku Medical Megabank Project. The data of approximately 20,000 individuals has undergone whole genome sequence analysis since its previous release (38KJPN) in June 2022. The analyzed data will then be provided sequentially to researchers nationwide. The quality information of each analyzed data is available on the web page of Sample Repository.

Japanese Whole Genome Reference Panel 54KJPN

The Japanese whole-genome reference panel 54KJPN was constructed by selecting 54,000 individuals, who are assumed to be unrelated to each other to avoid frequency bias, from the whole genome sequence of 69,000 individuals. The table below compares the number of genome variations in the past and in new versions. Comparing 54KJPN to 38KJPN, the previous version, as announced in June 2022, the number of individuals increased by 16,000 and the number of SNVs and INDELs discovered increased by approximately 10 million and 2.3 million, respectively.

Additionally, the HLA panel 38KJN-HLA has expanded into the 54KJPN-HLA.

Related Link

Completion of 50,000 Japanese whole genome sequence analysis and release of whole genome reference panel of 38,000 Japanese individuals (38KJPN) （2022/07/19）

Genome information for 14,000 people is now available -jMorp 2021 major update-（2021/12/27）

Allele frequency data of the 8.3KJPN has been released from dbSNP（2021/06/29）

Release of locations and allele frequencies of all SNVs in whole genome sequences of 2,049 Japanese individuals （2016/06/21）

Constructing the First Version of the Japanese Reference Genome [Press Release]（2021/01/29）