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    Genome and metabolome data expansion, including MNV allele and genotype frequency panel -jMorp 2024 major update-

    Research: 2024/10/23

    In September 2024, we updated the Japanese Multi Omics Reference Panel (jMorp). This update includes expanded genome and metabolome data. Additionally, we are pleased to announce the first release of a multi-nucleotide variant (MNV) allele and genotype frequency panel.

    Update Details
    Genome

    We constructed the 60KJPN, a Japanese whole-genome reference panel, by selecting 60,000 individuals from the whole-genome data of 85,000 people, ensuring to minimize kinship bias. Additionally, we have released the 60KJPN-HLA and 60KJPN-STR panels, which summarize allele frequencies from HLA and STR analyses of the same samples used in the 60KJPN-SNV/INDEL panel.

    Go to jMorp
    Bulk download (SNV, INDEL, STR, HLA)
    Dataset details (60KJPN-SNV/INDEL) (60KJPN-STR) (60KJPN-HLA)

    Furthermore, we are pleased to announce the first release of multi-nucleotide variant (MNV) allele and genotype frequency panel. (example page)
    Analysis of MNVs may not be as common as that of SNVs and INDELs. However, MNVs can have different impacts on the amino acid sequence of proteins compared to SNVs, potentially leading to significant changes in protein function. Additionally, some diseases may develop not just from a single SNV but from a combination of multiple variants. In this regard, the frequency data of MNVs in the Japanese population could be an important resource for purposes such as disease screening.

    Go to jMorp
    Bulk download (MNV)
    Dataset details (MNV) *table

    Metabolome

    We have expanded our metabolome analysis data to cover approximately 73,000 volunteers. The targeted metabolome analysis by LC-MS/MS now includes a dataset with approximately 2,000 children. This allows us to observe differences in distribution across a wider age range. The metabolome data for children is the first to be included in jMorp, and globally, a metabolome dataset of this scale for 2,000 children in the general population is considered rare.

    Go to jMorp (Metabolome)
    Dataset details (Metabolome 2024)

     

    Revision of Whole-Genome Reference Panel Construction Process

    The protocol for constructing the whole-genome reference panel has been revised. From the first version to the last version, principal component analysis (PCA) was employed to assess genomic similarity, facilitating the construction of panels for groups exhibiting a defined degree of similarity while mitigating the risk of identifying individuals with unique genomic profiles. We decided not to adopt the process of constructing a panel based on genomic similarity using the results of the PCA. Because due to the significant expansion in the number of included samples and variants, the risk of individual identification has been further minimized. Furthermore, there has been an increased demand for a more comprehensive panel, as evidenced by the usage trends of prior versions.
    The panel will retain the designation "Japanese Whole-Genome Reference Panel" and will now encompass all data obtained from cohort study participants, provided that the data meet a specified quality standard. No distinctions based on demographic information will be applied to determine inclusion in the panel.

     

    How to use jMorp

    Please refer to the link below.
    https://jmorp.megabank.tohoku.ac.jp/help/tutorial

     

    Related Link

    Near Telomere-to-telomere Japanese Reference Genome Sequence and Mitochondrial DNA Heteroplasmic Variants Panel Are Released on jMorp(2024/07/08)

    Metabolome, transcriptome, metagenome, and genome data expansion -jMorp 2023 major update-(2023/09/04)