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Research | 15 January 2021 | Open
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
- Shinichi Nagaoka
- , Yumi Yamaguchi-Kabata
- , Naomi Shiga
- , Masahito Tachibana
- , Jun Yasuda
- , Shu Tadaka
- , Gen Tamiya
- , Nobuo Fuse
- , Kengo Kinoshita
- , Shigeo Kure
- , Jun Murotsuki
- , Masayuki Yamamoto
- , Nobuo Yaegashi
- & Junichi Sugawara
Human Genome Variation 8 , 1–17

Rights & permissionsfor article Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals . Opens in a new window.
Research | 13 January 2021 | Open
Facial UV photo imaging for skin pigmentation assessment using conditional generative adversarial networks
- Kaname Kojima
- , Kosuke Shido
- , Gen Tamiya
- , Kenshi Yamasaki
- , Kengo Kinoshita
- & Setsuya Aiba
Scientific Reports 11 , 1–14

Rights & permissionsfor article Facial UV photo imaging for skin pigmentation assessment using conditional generative adversarial networks . Opens in a new window.
Research | 11 January 2021 | Open
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
- Jun Takayama
- , Shu Tadaka
- , Kenji Yano
- , Fumiki Katsuoka
- , Chinatsu Gocho
- , Takamitsu Funayama
- , Satoshi Makino
- , Yasunobu Okamura
- , Atsuo Kikuchi
- , Sachiyo Sugimoto
- , Junko Kawashima
- , Akihito Otsuki
- , Mika Sakurai-Yageta
- , Jun Yasuda
- , Shigeo Kure
- , Kengo Kinoshita
- , Masayuki Yamamoto
- & Gen Tamiya
Nature Communications 12 , 1–14

Rights & permissionsfor article Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference . Opens in a new window.
Research | 10 December 2020 | Open
Machine learning to reveal hidden risk combinations for the trajectory of posttraumatic stress disorder symptoms
- Yuta Takahashi
- , Kazuki Yoshizoe
- , Masao Ueki
- , Gen Tamiya
- , Yu Zhiqian
- , Yusuke Utsumi
- , Atsushi Sakuma
- , Koji Tsuda
- , Atsushi Hozawa
- , Ichiro Tsuji
- & Hiroaki Tomita
Scientific Reports 10 , 1–10

Rights & permissionsfor article Machine learning to reveal hidden risk combinations for the trajectory of posttraumatic stress disorder symptoms . Opens in a new window.
Research | 11 November 2020 | Open
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population
- Seizo Koshiba
- , Ikuko N. Motoike
- , Daisuke Saigusa
- , Jin Inoue
- , Yuichi Aoki
- , Shu Tadaka
- , Matsuyuki Shirota
- , Fumiki Katsuoka
- , Gen Tamiya
- , Naoko Minegishi
- , Nobuo Fuse
- , Kengo Kinoshita
- & Masayuki Yamamoto
Communications Biology 3 , 1–15

Rights & permissionsfor article Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population . Opens in a new window.
Reviews | 11 August 2020
Artificial intelligence powered statistical genetics in biobanks
- Akira Narita
- , Masao Ueki
- & Gen Tamiya
Journal of Human Genetics 66 , 61–65

Rights & permissionsfor article Artificial intelligence powered statistical genetics in biobanks . Opens in a new window.
Research | 17 August 2020 | Open
Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes
- Yuta Takahashi
- , Masao Ueki
- , Gen Tamiya
- , Soichi Ogishima
- , Kengo Kinoshita
- , Atsushi Hozawa
- , Naoko Minegishi
- , Fuji Nagami
- , Kentaro Fukumoto
- , Kotaro Otsuka
- , Kozo Tanno
- , Kiyomi Sakata
- , Atsushi Shimizu
- , Makoto Sasaki
- , Kenji Sobue
- , Shigeo Kure
- , Masayuki Yamamoto
- & Hiroaki Tomita
Translational Psychiatry 10 , 1–11

Rights & permissionsfor article Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes . Opens in a new window.
Research | 17 August 2020 | Open
Clustering by phenotype and genome-wide association study in autism
- Akira Narita
- , Masato Nagai
- , Satoshi Mizuno
- , Soichi Ogishima
- , Gen Tamiya
- , Masao Ueki
- , Rieko Sakurai
- , Satoshi Makino
- , Taku Obara
- , Mami Ishikuro
- , Chizuru Yamanaka
- , Hiroko Matsubara
- , Yasutaka Kuniyoshi
- , Keiko Murakami
- , Fumihiko Ueno
- , Aoi Noda
- , Tomoko Kobayashi
- , Mika Kobayashi
- , Takuma Usuzaki
- , Hisashi Ohseto
- , Atsushi Hozawa
- , Masahiro Kikuya
- , Hirohito Metoki
- , Shigeo Kure
- & Shinichi Kuriyama
Translational Psychiatry 10 , 1–12

Rights & permissionsfor article Clustering by phenotype and genome-wide association study in autism . Opens in a new window.
Research | 18 June 2019 | Open
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
- Shu Tadaka
- , Fumiki Katsuoka
- , Masao Ueki
- , Kaname Kojima
- , Satoshi Makino
- , Sakae Saito
- , Akihito Otsuki
- , Chinatsu Gocho
- , Mika Sakurai-Yageta
- , Inaho Danjoh
- , Ikuko N. Motoike
- , Yumi Yamaguchi-Kabata
- , Matsuyuki Shirota
- , Seizo Koshiba
- , Masao Nagasaki
- , Naoko Minegishi
- , Atsushi Hozawa
- , Shinichi Kuriyama
- , Atsushi Shimizu
- , Jun Yasuda
- , Nobuo Fuse
- , Gen Tamiya
- , Masayuki Yamamoto
- & Kengo Kinoshita
Human Genome Variation 6 , 1–9

Rights & permissionsfor article 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome . Opens in a new window.
Research | 4 October 2018 | Open
Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods
- Taku Obara
- , Mami Ishikuro
- , Gen Tamiya
- , Masao Ueki
- , Chizuru Yamanaka
- , Satoshi Mizuno
- , Masahiro Kikuya
- , Hirohito Metoki
- , Hiroko Matsubara
- , Masato Nagai
- , Tomoko Kobayashi
- , Machiko Kamiyama
- , Mikako Watanabe
- , Kazuhiko Kakuta
- , Minami Ouchi
- , Aki Kurihara
- , Naru Fukuchi
- , Akihiro Yasuhara
- , Masumi Inagaki
- , Makiko Kaga
- , Shigeo Kure
- & Shinichi Kuriyama
Scientific Reports 8 , 1–7

Rights & permissionsfor article Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods . Opens in a new window.
Research | 19 May 2020 | Open
Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection
- Yuta Takahashi
- , Masao Ueki
- , Makoto Yamada
- , Gen Tamiya
- , Ikuko N. Motoike
- , Daisuke Saigusa
- , Miyuki Sakurai
- , Fuji Nagami
- , Soichi Ogishima
- , Seizo Koshiba
- , Kengo Kinoshita
- , Masayuki Yamamoto
- & Hiroaki Tomita
Translational Psychiatry 10 , 1–12

Rights & permissionsfor article Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection . Opens in a new window.
Amendments and Corrections | 25 August 2016
Correction: Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis
- Daisuke Ogino
- , Taeko Hashimoto
- , Motoshi Hattori
- , Noriko Sugawara
- , Yuko Akioka
- , Gen Tamiya
- , Satoshi Makino
- , Kentaro Toyota
- , Tetsuo Mitsui
- & Kiyoshi Hayasaka
Journal of Human Genetics 61 , 771–772

Rights & permissionsfor article Correction: Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis . Opens in a new window.
Research | 13 November 2014
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms
- Hiroko Sato
- , Toshihiko Uchida
- , Kentaro Toyota
- , Tomohiro Nakamura
- , Gen Tamiya
- , Miyako Kanno
- , Taeko Hashimoto
- , Masashi Watanabe
- , Kuraaki Aoki
- & Kiyoshi Hayasaka
Journal of Human Genetics 60 , 35–40

Rights & permissionsfor article Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms . Opens in a new window.
Research | 15 October 2015
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis
- Daisuke Ogino
- , Taeko Hashimoto
- , Motoshi Hattori
- , Noriko Sugawara
- , Yuko Akioka
- , Gen Tamiya
- , Satoshi Makino
- , Kentaro Toyota
- , Tetsuo Mitsui
- & Kiyoshi Hayasaka
Journal of Human Genetics 61 , 137–141

Rights & permissionsfor article Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis . Opens in a new window.
Research | 14 February 2013
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy
- Kentaro Toyota
- , Taeko Hashimoto
- , Daisuke Ogino
- , Akira Matsunaga
- , Minoru Ito
- , Ikuto Masakane
- , Noriyuki Degawa
- , Hiroshi Sato
- , Sayuri Shirai
- , Kazuo Umetsu
- , Gen Tamiya
- , Takao Saito
- & Kiyoshi Hayasaka
Journal of Human Genetics 58 , 254–258

Rights & permissionsfor article A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy . Opens in a new window.
Research | 2 October 2007
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity
- Kouji Maeda
- , Ryuji Kaji
- , Katsuhito Yasuno
- , Jamiyansuren Jambaldorj
- , Hiroyuki Nodera
- , Hiroshi Takashima
- , Masanori Nakagawa
- , Satoshi Makino
- & Gen Tamiya
Journal of Human Genetics 52 , 907–914

Rights & permissionsfor article Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity . Opens in a new window.
Research | 27 September 2012
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding
- Hiroko Sato
- , Toshihiko Uchida
- , Kentaro Toyota
- , Miyako Kanno
- , Taeko Hashimoto
- , Masashi Watanabe
- , Tomohiro Nakamura
- , Gen Tamiya
- , Kuraaki Aoki
- & Kiyoshi Hayasaka
Journal of Human Genetics 58 , 7–10

Rights & permissionsfor article Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding . Opens in a new window.
Research | 18 December 2019 | Open
Automated acquisition of explainable knowledge from unannotated histopathology images
- Yoichiro Yamamoto
- , Toyonori Tsuzuki
- , Jun Akatsuka
- , Masao Ueki
- , Hiromu Morikawa
- , Yasushi Numata
- , Taishi Takahara
- , Takuji Tsuyuki
- , Kotaro Tsutsumi
- , Ryuto Nakazawa
- , Akira Shimizu
- , Ichiro Maeda
- , Shinichi Tsuchiya
- , Hiroyuki Kanno
- , Yukihiro Kondo
- , Manabu Fukumoto
- , Gen Tamiya
- , Naonori Ueda
- & Go Kimura
Nature Communications 10 , 1–9

Rights & permissionsfor article Automated acquisition of explainable knowledge from unannotated histopathology images . Opens in a new window.
Research | 3 July 2018 | Open
Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences
- Gen Hiyama
- , Shusei Mizushima
- , Mei Matsuzaki
- , Yasuko Tobari
- , Jae-Hoon Choi
- , Takashi Ono
- , Masaoki Tsudzuki
- , Satoshi Makino
- , Gen Tamiya
- , Naoki Tsukahara
- , Shoei Sugita
- & Tomohiro Sasanami
Scientific Reports 8 , 1–9

Rights & permissionsfor article Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences . Opens in a new window.
Research | 1 December 2017
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals
- Yumi Yamaguchi-Kabata
- , Jun Yasuda
- , Osamu Tanabe
- , Yoichi Suzuki
- , Hiroshi Kawame
- , Nobuo Fuse
- , Masao Nagasaki
- , Yosuke Kawai
- , Kaname Kojima
- , Fumiki Katsuoka
- , Sakae Saito
- , Inaho Danjoh
- , Ikuko N. Motoike
- , Riu Yamashita
- , Seizo Koshiba
- , Daisuke Saigusa
- , Gen Tamiya
- , Shigeo Kure
- , Nobuo Yaegashi
- , Yoshio Kawaguchi
- , Fuji Nagami
- , Shinichi Kuriyama
- , Junichi Sugawara
- , Naoko Minegishi
- , Atsushi Hozawa
- , Soichi Ogishima
- , Hideyasu Kiyomoto
- , Takako Takai-Igarashi
- , Kengo Kinoshita
- & Masayuki Yamamoto
Journal of Human Genetics 63 , 213–230

Rights & permissionsfor article Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals . Opens in a new window.
Research | 23 November 2017 | Open
Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6–TMC8 and SIX3–SIX2 loci associated with HbA_1c
- Tsuyoshi Hachiya
- , Shohei Komaki
- , Yutaka Hasegawa
- , Hideki Ohmomo
- , Kozo Tanno
- , Atsushi Hozawa
- , Gen Tamiya
- , Masayuki Yamamoto
- , Kuniaki Ogasawara
- , Motoyuki Nakamura
- , Jiro Hitomi
- , Yasushi Ishigaki
- , Makoto Sasaki
- & Atsushi Shimizu
Scientific Reports 7 , 1–11

Rights & permissionsfor article Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6–TMC8 and SIX3–SIX2 loci associated with HbA1c . Opens in a new window.

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Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

Facial UV photo imaging for skin pigmentation assessment using conditional generative adversarial networks

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Machine learning to reveal hidden risk combinations for the trajectory of posttraumatic stress disorder symptoms

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population

Artificial intelligence powered statistical genetics in biobanks

Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes

Clustering by phenotype and genome-wide association study in autism

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods

Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection

Correction: Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms

Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding

Automated acquisition of explainable knowledge from unannotated histopathology images

Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6–TMC8 and SIX3–SIX2 loci associated with HbA_1c

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