Unique roles of rare variants in the genetics of complex diseases in humans.
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis.
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
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Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
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Regional differences in genes and variants causing retinitis pigmentosa in Japan.
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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
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Relationship of Hemoglobin Level and Plasma Coproporphyrin-I Concentrations as an Endogenous Probe for Phenotyping OATP1B.
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A genome-wide association study on confection consumption in a Japanese population: the Japan Multi-Institutional Collaborative Cohort Study.
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Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium.
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese: the Japan Multi-Institutional Collaborative Cohort Study.
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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
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Assessing the relationship between high-sensitivity C-reactive protein and kidney function employing mendelian randomization in a Japanese community based J-MICC Study.
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Whole genome sequencing of 45 Japanese patients with intellectual disability.
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Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia.
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Comprehensive Analysis of Risk Factors for Periodontitis Focusing on the Saliva Microbiome and Polymorphism.
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Eight novel susceptibility loci and putative causal variants in atopic dermatitis.
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Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer.
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Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24.
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A genome-wide association study on meat consumption in a Japanese population: the Japan Multi-Institutional Collaborative Cohort study.
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Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas.
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Population-Based Impact of Smoking, Drinking, and Genetic Factors on HDL-Cholesterol Levels in J-MICC Study Participants.
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An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate.
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Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use
Otomo N, Lu H, Koido M, Kou I, Takeda K, Momozawa Y, et al.; J Bone Miner Res 36:1481-1491, 2021
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Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias
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