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Practical guide for managing large-scale human genome data in research

Journal of human genetics, 2021-01, Vol.66 (1), p.39-52

2021

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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Journal of human genetics, 2019-05, Vol.64 (5), p.359-368

2019

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

Human genome variation, 2019-06, Vol.6 (1), p.28-28, Article 28

2019

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Direct reprogramming of human umbilical vein- and peripheral blood-derived endothelial cells into hepatic progenitor cells

Nature communications, 2020-10, Vol.11 (1), p.5292-5292, Article 5292

2020

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Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

Journal of human genetics, 2015-10, Vol.60 (10), p.581-587

2015

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The Dynamics of Transcriptional Activation by Hepatic Reprogramming Factors

Molecular cell, 2020-08, Vol.79 (4), p.660-676.e8

2020

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Time-Series Filtering for Replicated Observations via a Kernel Approximate Bayesian Computation

IEEE transactions on signal processing, 2018-12, Vol.66 (23), p.6148-6161

2018

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rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Scientific reports, 2021-02, Vol.11 (1), p.4557-4557, Article 4557

2021

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Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels

Genetics (Austin), 2020-04, Vol.214 (4), p.1079-1090

2020

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Machine learning approaches to predict gestational age in normal and complicated pregnancies via urinary metabolomics analysis

Scientific reports, 2021-09, Vol.11 (1), p.17777-17777, Article 17777

2021

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HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data

BMC genomics, 2015-01, Vol.16 Suppl 2 (S2), p.S7-S7, Article S7

2015

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Comparison of Boiling and Robotics Automation Method in DNA Extraction for Metagenomic Sequencing of Human Oral Microbes

PloS one, 2016-04, Vol.11 (4), p.e0154389-e0154389

2016

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Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals

PloS one, 2015-06, Vol.10 (6), p.e0131607-e0131607

2015

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NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study

Journal of gastroenterology, 2018-09, Vol.53 (9), p.1065-1078

2018

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CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome

Journal of human genetics, 2023-06, Vol.68 (6), p.427-430

2023

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Epidermal growth factor receptor tyrosine kinase defines critical prognostic genes of stage I lung adenocarcinoma

PloS one, 2012-09, Vol.7 (9), p.e43923

2012

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Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals

Drug metabolism and disposition, 2018-08, Vol.46 (8), p.1083-1090

2018

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Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina

Glia, 2016-11, Vol.64 (11), p.2005-2024

2016

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An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations

Scientific reports, 2020-06, Vol.10 (1), p.10236-10236, Article 10236

2020

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Secure secondary utilization system of genomic data using quantum secure cloud

Scientific reports, 2022-11, Vol.12 (1), p.18530-18530, Article 18530

2022

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Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia

Molecular neurobiology, 2023-02, Vol.60 (2), p.1083-1098

2023

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Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population

European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1282-1291

2021

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Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway

International journal of molecular sciences, 2023-03, Vol.24 (5), p.5019

2023

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Practical guide for managing large-scale human genome data in research

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Frequent pathway mutations of splicing machinery in myelodysplasia

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

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Direct reprogramming of human umbilical vein- and peripheral blood-derived endothelial cells into hepatic progenitor cells

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

The Dynamics of Transcriptional Activation by Hepatic Reprogramming Factors

Time-Series Filtering for Replicated Observations via a Kernel Approximate Bayesian Computation

rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels

Machine learning approaches to predict gestational age in normal and complicated pregnancies via urinary metabolomics analysis

HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data

Comparison of Boiling and Robotics Automation Method in DNA Extraction for Metagenomic Sequencing of Human Oral Microbes

Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals

NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study

CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome

Epidermal growth factor receptor tyrosine kinase defines critical prognostic genes of stage I lung adenocarcinoma

Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals

Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina

An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations

Secure secondary utilization system of genomic data using quantum secure cloud

Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia

Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population

Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway

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