Author: Jaakko Tuomilehto

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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  • Site-wide: 349
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• Year to date:
  • Site-wide: 28,662
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  • Site-wide: 59,641

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,640
  • In genetics: 89
• Year to date:
  • Site-wide: 115,364
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  • Site-wide: 73,333

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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  • Site-wide: 4,265
  • In genomics: 440
• Year to date:
  • Site-wide: 83,079
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  • Site-wide: 58,254

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 4,394
  • In genetics: 169
• Year to date:
  • Site-wide: 34,228
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  • Site-wide: 61,663

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 9,587
  • In genetics: 417
• Year to date:
  • Site-wide: 100,017
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  • Site-wide: 61,447

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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  • Site-wide: 10,867
  • In genetics: 481
• Year to date:
  • Site-wide: 61,148
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  • Site-wide: None

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

• Downloaded 1,690 times
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  • Site-wide: 11,204
  • In genetics: 499
• Year to date:
  • Site-wide: 85,582
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  • Site-wide: 22,864

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

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  • Site-wide: 14,198
  • In genetic and genomic medicine: 60
• Year to date:
  • Site-wide: 6,285
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  • Site-wide: 13,265

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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  • Site-wide: 19,514
  • In genetics: 903
• Year to date:
  • Site-wide: 96,909
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  • Site-wide: 61,869

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 22,003
  • In genetics: 1,004
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  • Site-wide: 10,170
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 24,645
  • In genetics: 1,126
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  • Site-wide: 23,411
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  • Site-wide: 90,580

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

• Downloaded 916 times
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  • Site-wide: 27,655
  • In genetic and genomic medicine: 107
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  • Site-wide: 29,881
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  • Site-wide: 28,760

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

• Downloaded 848 times
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  • Site-wide: 30,844
  • In genetics: 1,420
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  • Site-wide: 6,923
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  • Site-wide: 510

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

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  • Site-wide: 34,369
  • In genetic and genomic medicine: 137
• Year to date:
  • Site-wide: 20,534
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  • Site-wide: 41,750

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

• Downloaded 776 times
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  • Site-wide: 34,956
  • In genomics: 2,957
• Year to date:
  • Site-wide: 110,580
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  • Site-wide: 59,227

Interactions between genetic variation and cellular environment in skeletal muscle gene expression

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  • Site-wide: 49,148
  • In genetics: 2,182
• Year to date:
  • Site-wide: 141,108
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  • Site-wide: None

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

• Downloaded 375 times
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  • Site-wide: 81,670
  • In genetic and genomic medicine: 350
• Year to date:
  • Site-wide: 12,879
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  • Site-wide: 16,987