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Article

Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.

Communications biology - 5 Mar 2020

Yamamoto Kenichi, Sakaue Saori, Matsuda Koichi, Murakami Yoshinori, Kamatani Yoichiro, Ozono Keiichi, Momozawa Yukihide, Okada Yukinori

Abstract excerpt

The genetic landscape of mitochondrial DNA (mtDNA) has been elusive. By analyzing mtDNA using the whole genome sequence (WGS) of Japanese individuals (n = 1928), we identified 2023 mtDNA variants and high-resolution haplogroups. Frequency spectra of the haplogroups were population-specific and were heterogeneous among geographic regions within Japan. Application of machine learning methods could finely classify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32139841
DOI: 10.1038/s42003-020-0812-9
PMCID: PMC7058612

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