Author: Yoichiro Kamatani

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Preprints

Current clinical use of polygenic scores will risk exacerbating health disparities

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  • Site-wide: 1,374
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  • Site-wide: 13,288
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  • Site-wide: 22,158

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 5,787
  • In genetics: 271
• Year to date:
  • Site-wide: 5,384
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  • Site-wide: 6,062

Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases

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  • Site-wide: 6,033
  • In genetics: 284
• Year to date:
  • Site-wide: 7,542
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Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 6,057
  • In genetics: 287
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  • Site-wide: 27,911
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  • Site-wide: 24,235

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,353
  • In genetic and genomic medicine: 24
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  • Site-wide: 16,773

A global atlas of genetic associations of 220 deep phenotypes

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  • Site-wide: 7,760
  • In genetic and genomic medicine: 26
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  • Site-wide: 1,104
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  • Site-wide: 382

Identification of type 2 diabetes loci in 433,540 East Asian individuals

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  • Site-wide: 8,588
  • In genetics: 404
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  • Site-wide: 30,693
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Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

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  • Site-wide: 10,520
  • In psychiatry and clinical psychology: 35
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  • Site-wide: 5,280
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  • Site-wide: None

Legacy Data Confounds Genomics Studies

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  • Site-wide: 11,129
  • In bioinformatics: 1,361
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  • Site-wide: 71,350

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

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  • Site-wide: 11,355
  • In genomics: 1,237
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  • Site-wide: 7,887
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  • Site-wide: 12,039

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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  • Site-wide: 13,235
  • In genetics: 650
• Year to date:
  • Site-wide: 67,926
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  • Site-wide: 86,575

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

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  • Site-wide: 13,933
  • In genetics: 686
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  • Site-wide: 16,702
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  • Site-wide: 18,078

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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  • Site-wide: 18,516
  • In genetic and genomic medicine: 64
• Year to date:
  • Site-wide: 7,138
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  • Site-wide: 7,680

Population-specific and transethnic genome-wide analyses reveal distinct and shared genetic risks of coronary artery disease

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  • Site-wide: 21,011
  • In genetics: 1,011
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  • Site-wide: 34,969
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

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  • Site-wide: 24,321
  • In genomics: 2,328
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  • Site-wide: 64,771
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  • Site-wide: 78,461

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 27,371
  • In genetics: 1,331
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  • Site-wide: 59,529
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  • Site-wide: 62,986

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Site-wide: 27,985
  • In genetic and genomic medicine: 88
• Year to date:
  • Site-wide: 5,067
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  • Site-wide: 5,693

A multi-task convolutional deep learning method for HLA allelic imputation and its application to trans-ethnic MHC fine-mapping of type 1 diabetes

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  • Site-wide: 29,881
  • In genetic and genomic medicine: 93
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  • Site-wide: 4,708
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Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

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  • Site-wide: 33,530
  • In genetics: 1,632
• Year to date:
  • Site-wide: 118,498
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  • Site-wide: 106,331

Endogenization and excision of human herpesvirus 6 in human genomes

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  • Site-wide: 38,136
  • In genetics: 1,821
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  • Site-wide: 95,046
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  • Site-wide: 74,165

The genomic landscape of clonal hematopoiesis in Japan

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  • Site-wide: 41,363
  • In genetics: 1,962
• Year to date:
  • Site-wide: 92,818
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  • Site-wide: 77,697

Transethnic meta-analysis of genome-wide association studies identifies three new loci and characterizes population-specific differences for coronary artery disease

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  • Site-wide: 44,733
  • In genetics: 2,109
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  • Site-wide: 52,594
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Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

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  • Site-wide: 49,958
  • In genetics: 2,338
• Year to date:
  • Site-wide: 77,633
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  • Site-wide: 107,400

Predicting cell-type-specific non-coding RNA transcription from genome sequence

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  • Site-wide: 50,659
  • In genomics: 3,962
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  • Site-wide: 38,148
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  • Site-wide: 33,127

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

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  • Site-wide: 52,785
  • In genomics: 4,079
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  • Site-wide: 63,052
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  • Site-wide: 65,192

Genetically independent phenotype analysis identifies LPA and VCAM1 as drug targets for human ageing

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  • Site-wide: 56,054
  • In genomics: 4,233
• Year to date:
  • Site-wide: 2,932
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  • Site-wide: 28,882

Genome-wide association meta-analysis identifies novel GP2 gene risk variants for pancreatic cancer in the Japanese population

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  • Site-wide: 57,510
  • In genetics: 2,683
• Year to date:
  • Site-wide: 110,687
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  • Site-wide: 114,239

Trans-ethnic Mendelian randomization study reveals causal relationships between cardio-metabolic factors and chronic kidney disease

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  • Site-wide: 58,053
  • In epidemiology: 2,504
• Year to date:
  • Site-wide: 26,211
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  • Site-wide: 21,989

Elucidating the genetic architecture of reproductive ageing in the Japanese population

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  • Site-wide: 60,003
  • In genetics: 2,790
• Year to date:
  • Site-wide: 124,983
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  • Site-wide: 105,038

GWAS identifies nine nephrolithiasis susceptibility loci related with metabolic and crystallization pathways

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  • Site-wide: 64,405
  • In genetics: 2,989
• Year to date:
  • Site-wide: 69,992
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  • Site-wide: 65,199

Genetic variants for head size share genes and pathways with cancer

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  • Site-wide: 71,705
  • In genomics: 4,943
• Year to date:
  • Site-wide: 38,953
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  • Site-wide: 29,607

SARS-CoV-2 ORF6 disturbs nucleocytoplasmic trafficking to advance the viral replication

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  • Site-wide: 82,796
  • In microbiology: 5,796
• Year to date:
  • Site-wide: 5,452
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  • Site-wide: 9,092

Population-wide Screening for Germline Variants of Hereditary Cancer Genes in 12K Unselected Japanese Colorectal Cancers and 27K Controls

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  • Site-wide: 99,265
  • In genetics: 4,427
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  • Site-wide: 74,232

Combined landscape of single-nucleotide variants and copy-number alterations in clonal hematopoiesis

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  • Site-wide: 113,087
  • In cancer biology: 3,482
• Year to date:
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  • Site-wide: 3,151