Genome information for 14,000 people is now available -jMorp 2021 major update-

Research: 2021/12/27

We updated a database, the Japanese Multi Omics Reference Panel (jMorp), which provides information on the human genome. We have analyzed the whole genome of 14,000 Japanese general residents and released 14KJPN, which contains information on Single Nucleotide Variant (SNV), location of INDEL (insertion (IN) and deletion (DEL)), allele frequency, and a number of alleles, on jMorp in December 2021.

In 2014, we released 1KJPN, the first whole genome analysis information for 1,000 individuals, and have been gradually increasing the amount of information released since then. The new information for 14,000 individuals is the largest in the world for a highly homogeneous ethnic group.
In addition, "JSV1", which covers large-scale base insertions and deletions called structural polymorphisms, has also been released on jMorp. 333 structural polymorphisms have been analyzed and applied to research on SNVs. At this moment, not much research has been done on structural polymorphisms in the world, and the release of JSV1 is expected to facilitate the understanding of genomic structural polymorphism.
We are also releasing information that applies the results of genome analysis. One is a genetic map based on the linkage disequilibrium information of 150 people. This is a map that shows the likelihood of recombination in the genome, and is the largest of its kind in Asia.
The other is a “showcase GWAS”. This is a summary data (summary statistics) of the results of genome-wide association analyses (GWAS) of approximately 64,000 individuals for 146 health survey items in our prospective genome cohort study. It is expected to be a useful entry point for researchers around the world who are engaged in genomic medical research.

While the current major genome analysis information in the world has been constructed mainly for European ethnic groups, there has been no data of this scale for Asian ethnic groups. jMorp is expected to enable new discoveries in genomic medicine that are not only common to Asian ethnic groups but also to other ethnic groups. We expect to make new discoveries in genomic medicine that are common among ethnic groups as well as Asian groups.

Go to jMorp (14KJPN)
Go to jMorp (JSV1(Genome Browser))
Go to jMorp (Genetic Map)
Go to jMorp (Showcase GWAS)-TGA000007-TGA000008-TGA000009

Other Update Details

Genome Variation

We also released 8.3KJPN-SV, a structural variation panel based on short read technology from about 8,300 individuals.　Go to jMorp (8.3KJPN-SV(Genome Browser))

Genome Sequence

We released Japanese reference genome JG2.1.0 as a successor of JG2.0.0.beta. In JG2.1.0, GRCh38-derived sequences are patched for undetermined regions. Resource bundles for WGS are available. (December 8th, 2021 updated)　Go to jMorp (JG2.1.0(Genome Browser))

Methylome

New tracks for DNA methylation levels of cord blood and nucleated RBC were added to Genome Browser. (December 8th, 2021 updated)　Go to jMorp (Methylome(Genome Browser))

Metabolome

We updated distributions of concentrations of 45 metabolites identified by NMR detected in 46,270 (33,124 non pregnant and 13,146 pregnant ) volunteers, 537 metabolites identified by Biocrates LC-MS in 7,079 volunteers, and distributions of peak intensities of 182 characterized metabolites by GC-MS in 4,618 volunteers. Moreover, information of metabolome data obtained from volunteers in repeat assessment survey by NMR and Biocrates LC-MS updated, 2,924 and 1,355 volunteers respectively. (September 30th, 2021 updated)　Go to jMorp (Metabolome)

Phenome (PGx)

We have integrated PGx (Pharmacogenomics) layer to jMorp. We have added analysis of changes in enzyme activity for 382 enzymes with genetic polymorphisms involving amino acid substitutions related to drug sensitivity.(September 30th, 2021 updated)　Go to jMorp (PGx)

How to use jMorp

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