picture: Ideographs of JG1
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Credit: Northeastern University

Since researchers at Tohoku University accomplished and launched the first Japanese reference genome (JG1), the Japanese now have their very own reference genome.

Their analysis is revealed in the journal Nature Communications January 11, 2021

Atsushi Takayama, the co-author of the research, stated: “JG1 can eliminate genomic differences with the international reference genome, so it can help Japanese patients with rare diseases perform clinical sequence analysis.”

As early as 2003, the Human Genome Project handed an enormous international effort to crack the code of life and map all the genes of the human genome.

Since then, individuals have achieved a extra correct version of the human reference genome. Advances in next-generation sequencing know-how have helped obtain this objective. The know-how permits brief readings of about a number of hundred bases in a massively parallel method, thereby lowering the value and time of sequencing DNA and RNA.

The worldwide reference genome relies on people of African-European descent. Due to the pure genomic variations mirrored in numerous populations, this hinders the analysis of genetic variants or uncommon ailments and most cancers driver genes in Japanese.

Professor Kenzo Wadamiya from Tohoku University Tohoku Medical University Banking Organization (ToMMo) and Next Generation Medical Innovation Advanced Research Center (INGEM), and colleagues from Tohoku University School of Medicine, School of Information Science, Japan RIKEN AIP Center, Miyagi Cancer The JG1 developed by the institute is the first half of the Japan Reference Genome Congress (JRGA) challenge.

This high-precision reference sequence is appropriate for the evaluation of the complete human genome. It is constructed by analyzing the genomes of three Japanese individuals utilizing high-coverage, long-read next-generation sequencing know-how.

Researchers can use JG1 to successfully research causal genetic variations in uncommon ailments and most cancers driver genes.

Takayama stated: “JG1 may be suitable for other populations, especially Asian populations. In addition, with JG1, the accuracy of the Japanese allele frequency and haplotype reference genome has been improved.”


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