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: 1,684
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  • Site-wide: 13,637
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  • Site-wide: 24,818

A global atlas of genetic associations of 220 deep phenotypes

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  • Site-wide: 5,038
  • In genetic and genomic medicine: 21
• Year to date:
  • Site-wide: 1,598
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  • Site-wide: 1,351

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

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  • Site-wide: 5,244
  • In psychiatry and clinical psychology: 20
• Year to date:
  • Site-wide: 2,024
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  • Site-wide: 14,224

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

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  • Site-wide: 5,286
  • In genetics: 213
• Year to date:
  • Site-wide: 4,941
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  • Site-wide: 22,406

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

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  • Site-wide: 6,172
  • In genetics: 255
• Year to date:
  • Site-wide: 9,067
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  • Site-wide: 14,536

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 7,296
  • In genetics: 309
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  • Site-wide: 49,707
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  • Site-wide: 75,463

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 8,603
  • In genetic and genomic medicine: 39
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  • Site-wide: 35,730
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  • Site-wide: 46,180

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

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  • Site-wide: 9,992
  • In genetics: 420
• Year to date:
  • Site-wide: 47,367
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  • Site-wide: 75,068

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

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  • Site-wide: 10,746
  • In genomics: 1,076
• Year to date:
  • Site-wide: 1,866
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  • Site-wide: 3,847

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: 11,887
  • In genetics: 519
• Year to date:
  • Site-wide: 11,208
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  • Site-wide: 13,021

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

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  • Site-wide: 12,210
  • In genomics: 1,225
• Year to date:
  • Site-wide: 15,957
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  • Site-wide: 41,782

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

• Downloaded 1,643 times
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  • Site-wide: 12,603
  • In genetic and genomic medicine: 59
• Year to date:
  • Site-wide: 5,923
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  • Site-wide: 6,178

Legacy Data Confounds Genomics Studies

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  • Site-wide: 13,772
  • In bioinformatics: 1,558
• Year to date:
  • Site-wide: 119,457
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  • Site-wide: 153,990

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

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  • Site-wide: 14,075
  • In genetic and genomic medicine: 67
• Year to date:
  • Site-wide: 2,417
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  • Site-wide: 1,657

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: 15,233
  • In genetics: 681
• Year to date:
  • Site-wide: 70,973
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  • Site-wide: 102,037

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

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  • Site-wide: 17,806
  • In genetic and genomic medicine: 81
• Year to date:
  • Site-wide: 5,874
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  • Site-wide: 11,116

Insights from complex trait fine-mapping across diverse populations

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  • Site-wide: 21,645
  • In genetic and genomic medicine: 97
• Year to date:
  • Site-wide: 3,584
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  • Site-wide: 283

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

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  • Site-wide: 22,295
  • In genetics: 986
• Year to date:
  • Site-wide: 43,493
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  • Site-wide: 83,726

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: 28,768
  • In genetic and genomic medicine: 125
• Year to date:
  • Site-wide: 12,009
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  • Site-wide: 33,853

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

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  • Site-wide: 28,914
  • In genomics: 2,559
• Year to date:
  • Site-wide: 104,525
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  • Site-wide: 106,918

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 32,002
  • In genetics: 1,439
• Year to date:
  • Site-wide: 94,456
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  • Site-wide: 105,678

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

• Downloaded 737 times
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  • Site-wide: 40,890
  • In genetics: 1,795
• Year to date:
  • Site-wide: 149,394
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  • Site-wide: 147,426

Efficient prediction of a spatial transcriptomics profile better characterizes breast cancer tissue sections without costly experimentation

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  • Site-wide: 42,802
  • In genomics: 3,417
• Year to date:
  • Site-wide: 7,241
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  • Site-wide: 2,277

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

• Downloaded 698 times
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  • Site-wide: 44,031
  • In epidemiology: 2,180
• Year to date:
  • Site-wide: 22,352
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  • Site-wide: 29,550

Endogenization and excision of human herpesvirus 6 in human genomes

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  • Site-wide: 44,744
  • In genetics: 1,967
• Year to date:
  • Site-wide: 120,978
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  • Site-wide: 82,941

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

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  • Site-wide: 46,825
  • In genomics: 3,656
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  • Site-wide: 39,902
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  • Site-wide: 61,294

The genomic landscape of clonal hematopoiesis in Japan

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  • Site-wide: 46,884
  • In genetics: 2,055
• Year to date:
  • Site-wide: 103,876
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  • Site-wide: 75,045

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

• Downloaded 648 times
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  • Site-wide: 48,522
  • In genetics: 2,122
• Year to date:
  • Site-wide: 73,382
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  • Site-wide: 55,208

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

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  • Site-wide: 50,860
  • In genomics: 3,875
• Year to date:
  • Site-wide: 8,861
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  • Site-wide: 31,060

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

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  • Site-wide: 57,990
  • In genetics: 2,497
• Year to date:
  • Site-wide: 111,788
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  • Site-wide: 109,296

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

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  • Site-wide: 57,905
  • In microbiology: 3,632
• Year to date:
  • Site-wide: 10,315
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  • Site-wide: 14,740

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

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  • Site-wide: 59,594
  • In genomics: 4,365
• Year to date:
  • Site-wide: 94,646
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  • Site-wide: 89,495

Genetic variants for head size share genes and pathways with cancer

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  • Site-wide: 64,652
  • In genomics: 4,597
• Year to date:
  • Site-wide: 41,467
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  • Site-wide: 40,773

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

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  • Site-wide: 67,437
  • In genetics: 2,909
• Year to date:
  • Site-wide: 77,663
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  • Site-wide: 101,886

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

• Downloaded 491 times
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  • Site-wide: 68,137
  • In genetics: 2,936
• Year to date:
  • Site-wide: 138,569
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  • Site-wide: 113,789

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

• Downloaded 472 times
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  • Site-wide: 71,200
  • In cancer biology: 2,059
• Year to date:
  • Site-wide: 13,410
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  • Site-wide: 11,295

Elucidating the genetic architecture of reproductive ageing in the Japanese population

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  • Site-wide: 72,244
  • In genetics: 3,122
• Year to date:
  • Site-wide: 152,529
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  • Site-wide: 142,104

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: 107,640
  • In genetics: 4,486
• Year to date:
  • Site-wide: 85,268
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  • Site-wide: 65,208

Trans-ancestry genome-wide analysis of atrial fibrillation provides new insights into disease biology and enables polygenic prediction of cardioembolic risk

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  • Site-wide: 143,792
  • In genetic and genomic medicine: 834
• Year to date:
  • Site-wide: 59,334
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  • Site-wide: 5,190