Masao Nagasaki

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Publications in SciGraph latest 50 shown

  • 2021-09-07 Machine learning approaches to predict gestational age in normal and complicated pregnancies via urinary metabolomics analysis in SCIENTIFIC REPORTS
  • 2021-04-09 Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-02-25 rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis in SCIENTIFIC REPORTS
  • 2021-02-11 Mapping of susceptible variants for cold medicine-related Stevens–Johnson syndrome by whole-genome resequencing in NPJ GENOMIC MEDICINE
  • 2020-10-23 Practical guide for managing large-scale human genome data in research in JOURNAL OF HUMAN GENETICS
  • 2020-10-21 Direct reprogramming of human umbilical vein- and peripheral blood-derived endothelial cells into hepatic progenitor cells in NATURE COMMUNICATIONS
  • 2020-09-23 A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis in COMMUNICATIONS BIOLOGY
  • 2020-09-14 Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study in HUMAN GENOMICS
  • 2020-06-24 An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn’s Disease in Japanese Populations in SCIENTIFIC REPORTS
  • 2020-06-12 Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome in NPJ BREAST CANCER
  • 2020-01-14 Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study in SCIENTIFIC REPORTS
  • 2019-11-25 Correction to: High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype in JOURNAL OF GASTROENTEROLOGY
  • 2019-10-22 High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype in JOURNAL OF GASTROENTEROLOGY
  • 2019-07-03 A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease in PEDIATRIC RHEUMATOLOGY
  • 2019-06-19 HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel in HUMAN GENOME VARIATION
  • 2019-06-18 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome in HUMAN GENOME VARIATION
  • 2019-06-07 Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing in HUMAN GENOME VARIATION
  • 2019-03-18 Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals in HUMAN GENETICS
  • 2019-02-13 A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2019-01-14 POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33 in SCIENTIFIC REPORTS
  • 2018-10-22 Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy in SCIENTIFIC REPORTS
  • 2018-07-24 Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project in BMC GENOMICS
  • 2018-06-19 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 in JOURNAL OF GASTROENTEROLOGY
  • 2018-06-07 Author Correction: Analysis of Müller glia specific genes and their histone modification using Hes1-promoter driven EGFP expressing mouse in SCIENTIFIC REPORTS
  • 2018-05-23 NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population in SCIENTIFIC REPORTS
  • 2018-01-19 Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing in THE PHARMACOGENOMICS JOURNAL
  • 2017-12-01 Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals in JOURNAL OF HUMAN GENETICS
  • 2017-07-06 Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design in BMC MEDICAL INFORMATICS AND DECISION MAKING
  • 2017-06-15 Analysis of Müller glia specific genes and their histone modification using Hes1-promoter driven EGFP expressing mouse in SCIENTIFIC REPORTS
  • 2017-06-06 Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis in SCIENTIFIC REPORTS
  • 2017-04-13 Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies in NPJ GENOMIC MEDICINE
  • 2017-01-19 Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications in JOURNAL OF HUMAN GENETICS
  • 2016-12-03 STR-realigner: a realignment method for short tandem repeat regions in BMC GENOMICS
  • 2016-09-21 AP-SKAT: highly-efficient genome-wide rare variant association test in BMC GENOMICS
  • 2016-08-31 Short tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent tree in BMC GENOMICS
  • 2016-08-16 The structural origin of metabolic quantitative diversity in SCIENTIFIC REPORTS
  • 2016-08-10 Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn’s disease and leprosy in SCIENTIFIC REPORTS
  • 2016-07-05 Transition of differential histone H3 methylation in photoreceptors and other retinal cells during retinal differentiation in SCIENTIFIC REPORTS
  • 2016-01-11 A Bayesian approach for estimating allele-specific expression from RNA-Seq data with diploid genomes in BMC GENOMICS
  • 2015-11-26 iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing in HUMAN GENOME VARIATION
  • 2015-08-21 Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals in NATURE COMMUNICATIONS
  • 2015-06-25 Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals in JOURNAL OF HUMAN GENETICS
  • 2015-01-21 Estimating copy numbers of alleles from population-scale high-throughput sequencing data in BMC BIOINFORMATICS
  • 2015-01-21 HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data in BMC GENOMICS
  • 2014-12-12 TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads in BMC GENOMICS
  • 2014-08-10 Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population in BMC GENOMICS
  • 2014-08-08 SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing in BMC GENOMICS
  • 2014-04-30 Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia in ANNALS OF HEMATOLOGY
  • 2014 SVEM: A Structural Variant Estimation Method Using Multi-mapped Reads on Breakpoints in ALGORITHMS FOR COMPUTATIONAL BIOLOGY
  • 2014 HapMonster: A Statistically Unified Approach for Variant Calling and Haplotyping Based on Phase-Informative Reads in ALGORITHMS FOR COMPUTATIONAL BIOLOGY
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