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).
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.
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.
|Number of SNVs||Number of INDELs|
Additionally, the HLA panel 38KJN-HLA has expanded into the 54KJPN-HLA.