Author: Jaakko Tuomilehto

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Preprints

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

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A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 101,974
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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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  • In genomics: 434
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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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

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

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

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  • In genetics: 489
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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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  • In genetic and genomic medicine: 61
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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

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

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  • Site-wide: 108,497

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

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

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

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

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  • In genetic and genomic medicine: 347
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