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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
by
Kosaki, Kenjiro
, Ishigaki, Kazuyoshi
, Akiyama, Masato
, Hirose, Nobuyoshi
, Arai, Yasumichi
, Matsuda, Koichi
, Yamamoto, Kazuhiko
, Kamatani, Yoichiro
, Sakaue, Saori
, Kanai, Masahiro
, Okada, Yukinori
, Kubo, Michiaki
, Sasaki, Takashi
, Momozawa, Yukihide
, Suematsu, Makoto
, Kishikawa, Toshihiro
in
45/23
/ 45/43
/ 45/61
/ 631/208/182
/ 631/208/457
/ 631/208/514/2254
/ Alcohols
/ Aldehyde dehydrogenase
/ Aldehyde Dehydrogenase, Mitochondrial - genetics
/ Animals
/ Asian Continental Ancestry Group - genetics
/ Disease - genetics
/ Evolution
/ Evolution, Molecular
/ Gene Frequency
/ Gene sequencing
/ Genome, Human
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Heterogeneity
/ Hominidae - genetics
/ Humanities and Social Sciences
/ Humans
/ Japan
/ Major histocompatibility complex
/ Metabolism
/ multidisciplinary
/ Natural selection
/ Nucleotide sequence
/ Nutrition
/ Polymorphism, Single Nucleotide
/ Quantitative Trait Loci
/ Science
/ Science (multidisciplinary)
/ Selection, Genetic
/ Signatures
/ Whole Genome Sequencing
2018
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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
by
Kosaki, Kenjiro
, Ishigaki, Kazuyoshi
, Akiyama, Masato
, Hirose, Nobuyoshi
, Arai, Yasumichi
, Matsuda, Koichi
, Yamamoto, Kazuhiko
, Kamatani, Yoichiro
, Sakaue, Saori
, Kanai, Masahiro
, Okada, Yukinori
, Kubo, Michiaki
, Sasaki, Takashi
, Momozawa, Yukihide
, Suematsu, Makoto
, Kishikawa, Toshihiro
in
45/23
/ 45/43
/ 45/61
/ 631/208/182
/ 631/208/457
/ 631/208/514/2254
/ Alcohols
/ Aldehyde dehydrogenase
/ Aldehyde Dehydrogenase, Mitochondrial - genetics
/ Animals
/ Asian Continental Ancestry Group - genetics
/ Disease - genetics
/ Evolution
/ Evolution, Molecular
/ Gene Frequency
/ Gene sequencing
/ Genome, Human
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Heterogeneity
/ Hominidae - genetics
/ Humanities and Social Sciences
/ Humans
/ Japan
/ Major histocompatibility complex
/ Metabolism
/ multidisciplinary
/ Natural selection
/ Nucleotide sequence
/ Nutrition
/ Polymorphism, Single Nucleotide
/ Quantitative Trait Loci
/ Science
/ Science (multidisciplinary)
/ Selection, Genetic
/ Signatures
/ Whole Genome Sequencing
2018
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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
by
Kosaki, Kenjiro
, Ishigaki, Kazuyoshi
, Akiyama, Masato
, Hirose, Nobuyoshi
, Arai, Yasumichi
, Matsuda, Koichi
, Yamamoto, Kazuhiko
, Kamatani, Yoichiro
, Sakaue, Saori
, Kanai, Masahiro
, Okada, Yukinori
, Kubo, Michiaki
, Sasaki, Takashi
, Momozawa, Yukihide
, Suematsu, Makoto
, Kishikawa, Toshihiro
in
45/23
/ 45/43
/ 45/61
/ 631/208/182
/ 631/208/457
/ 631/208/514/2254
/ Alcohols
/ Aldehyde dehydrogenase
/ Aldehyde Dehydrogenase, Mitochondrial - genetics
/ Animals
/ Asian Continental Ancestry Group - genetics
/ Disease - genetics
/ Evolution
/ Evolution, Molecular
/ Gene Frequency
/ Gene sequencing
/ Genome, Human
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Heterogeneity
/ Hominidae - genetics
/ Humanities and Social Sciences
/ Humans
/ Japan
/ Major histocompatibility complex
/ Metabolism
/ multidisciplinary
/ Natural selection
/ Nucleotide sequence
/ Nutrition
/ Polymorphism, Single Nucleotide
/ Quantitative Trait Loci
/ Science
/ Science (multidisciplinary)
/ Selection, Genetic
/ Signatures
/ Whole Genome Sequencing
2018
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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Journal Article
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
2018
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Overview
Understanding natural selection is crucial to unveiling evolution of modern humans. Here, we report natural selection signatures in the Japanese population using 2234 high-depth whole-genome sequence (WGS) data (25.9×). Using rare singletons, we identify signals of very recent selection for the past 2000–3000 years in multiple loci (ADH cluster, MHC region,
BRAP-ALDH2
,
SERHL2
). In large-scale genome-wide association study (GWAS) dataset (
n
= 171,176), variants with selection signatures show enrichment in heterogeneity of derived allele frequency spectra among the geographic regions of Japan, highlighted by two major regional clusters (Hondo and Ryukyu). While the selection signatures do not show enrichment in archaic hominin-derived genome sequences, they overlap with the SNPs associated with the modern human traits. The strongest overlaps are observed for the alcohol or nutrition metabolism-related traits. Our study illustrates the value of high-depth WGS to understand evolution and their relationship with disease risk.
Recent natural selection left signals in human genomes. Here, Okada et al. generate high-depth whole-genome sequence (WGS) data (25.9×) from 2,234 Japanese people of the BioBank Japan Project (BBJ), and identify signals of recent natural selection which overlap variants associated with human traits.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 45/43
/ 45/61
/ Alcohols
/ Aldehyde Dehydrogenase, Mitochondrial - genetics
/ Animals
/ Asian Continental Ancestry Group - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Japan
/ Major histocompatibility complex
/ Polymorphism, Single Nucleotide
/ Science
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