Constructing the first version of the Japanese reference genome

January 29, 2021

The Japanese now have their own reference genome thanks to researchers at Tohoku University who completed and released the first Japanese reference genome (JG1).

Their study was published in the journal Nature Communications on January 11, 2021.

"JG1 can aid with the clinical sequence analysis of Japanese individuals with rare diseases as it eliminates the genomic differences from the international reference genome," said Jun Takayama, co-author of the study.

Back in 2003, the Human Genome Project, through a gargantuan global effort, cracked the code of life and mapped all the genes of the human genome.

Since then, more accurate versions of the human reference genome have been realized. Aiding this has been the advancement in next-generation sequencing technologies that allow for short read of approximately several hundred bases in a massively parallel way, reducing the costs and time to sequence DNA and RNA.

The international reference genome is based on an individual of African-European descent. This hampers investigating genetic variants or rare disease and cancer driving genes in Japanese owing to natural genomic difference reflective in different populations.

Associate professor Takayama and professor Gen Tamiya from Tohoku University's Tohoku Medical Megabank Organization (ToMMo) and the Advanced Research Center for Innovations in Next-Generation Medicine (INGEM) and colleagues from Tohoku University School of Medicine, School of Information Sciences, RIKEN AIP Center, and Miyagi Cancer Research Institute developed JG1 as the first part of the Japanese Reference Genome Assembly (JRGA) project.

This high-precision reference sequence is applicable to the whole human genome analysis and was constructed by analyzing the genomes of three Japanese individuals using high-coverage, long-read next-generation sequencing technologies.

Researchers can efficiently investigate the causal genetic variants of rare diseases and cancer driver genes with JG1.

"JG1 may be applicable to other populations, especially those from Asia. In addition, with the JG1, the accuracy of the Japanese allele frequency and haplotype reference panels gets improved," added Takayama.
-end-


Tohoku University

Related Human Genome Articles from Brightsurf:

240 mammals help us understand the human genome
A large international consortium led by scientists at Uppsala University and the Broad Institute of MIT and Harvard has sequenced the genome of 130 mammals and analysed the data together with 110 existing genomes to allow scientist to identify which are the important positions in the DNA.

The National Human Genome Research Institute publishes new vision for human genomics
The National Human Genome Research Institute this week published its 'Strategic vision for improving human health at The Forefront of Genomics' in the journal Nature.

Interpreting the human genome's instruction manual
Berkeley Lab bioscientists are part of a nationwide research project, called ENCODE, that has generated a detailed atlas of the molecular elements that regulate our genes.

3-D shape of human genome essential for robust inflammatory response
The three-dimensional structure of the human genome is essential for providing a rapid and robust inflammatory response but is surprisingly not vital for reprogramming one cell type into another.

The genome of chimpanzees and gorillas could help to better understand human tumors
A new study by researchers from the Institute of Evolutionary Biology (IBE), a joint center of UPF and the Spanish National Research Council (CSIC), shows that, surprisingly, the distribution of mutations in human tumors is more similar to that of chimpanzees and gorillas than that of humans.

It's in our genome: Uncovering clues to longevity from human genetics
Researchers from Osaka University found that high blood pressure and obesity are the strongest factors reducing lifespan based on genetic and clinical information of 700,000 patients in the UK, Finland and Japan.

New limits to functional portion of human genome reported
An evolutionary biologist at the University of Houston has published new calculations that indicate no more than 25 percent of the human genome is functional.

Synthesizing the human genome from scratch
For the past 15 years, synthetic biologists have been figuring out how to synthesize an organism's complete set of DNA, including all of its genes.

Science and legal experts debate future uses and impact of human genome editing in Gender & the Genome
Precise, economical genome editing tools such as CRISPR have made it possible to make targeted changes in genes, which could be applied to human embryos to correct mutations, prevent disease, or alter traits.

Evolution purged many Neanderthal genes from human genome
Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, according to a study by Ivan Juric and colleagues at the University of California, Davis, published Nov.

Read More: Human Genome News and Human Genome Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.