JG2: an updated version of the Japanese population-specific reference genome
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来源：
Nature
关键字：
computational biology
发布时间：
2025-10-01 11:35
摘要：
JG2 is an updated population-specific reference genome for the Japanese population, constructed using advanced sequencing technologies. It improves upon its predecessor, JG1, by enhancing genomic coverage and assembly quality through phased assembly techniques. The study highlights the significance of population-specific reference genomes in capturing genetic diversity and aiding in genetic research. JG2 includes a substantial number of identified variants, making it a valuable resource for understanding the genetic landscape of the Japanese population.
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关键证据
JG2 genome comprises chromosome-level sequences, mitochondrial chromosomes and unplaced scaffolds, offering more comprehensive coverage.
The resulting JG2 genome contains 3,115,695 variants, of which 298,644 had an allele frequency of 1.0 in the 3.5KJPNv2 AF panel.
Comparative analyses with other reference genomes demonstrated the accuracy and representativeness of JG2.
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AI评分总结
JG2 is an updated population-specific reference genome for the Japanese population, constructed using advanced sequencing technologies. It improves upon its predecessor, JG1, by enhancing genomic coverage and assembly quality through phased assembly techniques. The study highlights the significance of population-specific reference genomes in capturing genetic diversity and aiding in genetic research. JG2 includes a substantial number of identified variants, making it a valuable resource for understanding the genetic landscape of the Japanese population.