Author: Markku Laakso

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Preprints

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

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  • Site-wide: 361
  • In genomics: 13
• Year to date:
  • Site-wide: 31,720
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  • Site-wide: 105,541

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: 4,357
  • In genomics: 444
• Year to date:
  • Site-wide: 90,473
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  • Site-wide: 105,456

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

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  • Site-wide: 4,487
  • In genetics: 171
• Year to date:
  • Site-wide: 37,499
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  • Site-wide: 105,638

Integrative approaches for large-scale transcriptome-wide association studies

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  • Site-wide: 5,061
  • In genetics: 209
• Year to date:
  • Site-wide: 62,741
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  • Site-wide: 26,139

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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  • Site-wide: 6,126
  • In genetics: 256
• Year to date:
  • Site-wide: 25,924
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  • Site-wide: None

Large-scale association analyses identify host factors influencing human gut microbiome composition

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  • Site-wide: 6,769
  • In genetics: 296
• Year to date:
  • Site-wide: 5,264
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  • Site-wide: 30,281

Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtypes

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  • Site-wide: 8,436
  • In genetics: 368
• Year to date:
  • Site-wide: 63,641
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  • Site-wide: 70,827

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

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  • Site-wide: 9,670
  • In genetics: 418
• Year to date:
  • Site-wide: 93,046
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  • Site-wide: 37,028

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

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  • Site-wide: 10,869
  • In genetics: 479
• Year to date:
  • Site-wide: 54,888
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  • Site-wide: 23,151

Association Analysis and Meta-Analysis of Multi-allelic Variants for Large Scale Sequence Data

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  • Site-wide: 11,066
  • In bioinformatics: 1,272
• Year to date:
  • Site-wide: 51,729
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  • Site-wide: 63,480

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: 11,407
  • In genetics: 505
• Year to date:
  • Site-wide: 93,581
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  • Site-wide: 87,293

Reverse GWAS: Using Genetics to Identify and Model Phenotypic Subtypes

• Downloaded 1,670 times
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  • Site-wide: 11,637
  • In genetics: 521
• Year to date:
  • Site-wide: 104,764
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  • Site-wide: 46,519

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

• Downloaded 1,478 times
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  • Site-wide: 13,921
  • In genetic and genomic medicine: 62
• Year to date:
  • Site-wide: 6,357
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  • Site-wide: 11,338

Exome sequencing identifies high-impact trait-associated alleles enriched in Finns

• Downloaded 1,475 times
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  • Site-wide: 13,948
  • In genomics: 1,421
• Year to date:
  • Site-wide: 83,910
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  • Site-wide: 70,809

Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study.

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  • Site-wide: 17,445
  • In genetic and genomic medicine: 76
• Year to date:
  • Site-wide: 2,434
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  • Site-wide: 1,413

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

• Downloaded 1,256 times
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  • Site-wide: 17,807
  • In genetics: 822
• Year to date:
  • Site-wide: 66,151
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  • Site-wide: 27,174

Efficient estimation and applications of cross-validated genetic predictions

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  • Site-wide: 20,164
  • In genetics: 924
• Year to date:
  • Site-wide: 40,698
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  • Site-wide: 50,192

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 20,632
  • In genetics: 943
• Year to date:
  • Site-wide: 9,164
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  • Site-wide: 7,119

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 993 times
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  • Site-wide: 25,192
  • In genetics: 1,144
• Year to date:
  • Site-wide: 25,875
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  • Site-wide: 114,557

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

• Downloaded 924 times
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  • Site-wide: 27,971
  • In genetic and genomic medicine: 112
• Year to date:
  • Site-wide: 31,515
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  • Site-wide: 52,046

Epigenome-wide association in adipose tissue from the METSIM cohort

• Downloaded 883 times
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  • Site-wide: 29,817
  • In genetics: 1,356
• Year to date:
  • Site-wide: 82,629
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  • Site-wide: None

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: 31,570
  • In genetics: 1,450
• Year to date:
  • Site-wide: 7,607
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  • Site-wide: 5,168

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

• Downloaded 828 times
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  • Site-wide: 32,573
  • In genetics: 1,497
• Year to date:
  • Site-wide: 137,411
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  • Site-wide: None

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

• Downloaded 807 times
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  • Site-wide: 33,806
  • In genetic and genomic medicine: 136
• Year to date:
  • Site-wide: 20,543
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  • Site-wide: 25,068

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

• Downloaded 605 times
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  • Site-wide: 49,678
  • In genetics: 2,194
• Year to date:
  • Site-wide: 137,344
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  • Site-wide: 70,255

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

• Downloaded 589 times
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  • Site-wide: 51,386
  • In genetics: 2,260
• Year to date:
  • Site-wide: 145,326
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  • Site-wide: None

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

• Downloaded 522 times
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  • Site-wide: 59,479
  • In genetics: 2,623
• Year to date:
  • Site-wide: 148,338
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  • Site-wide: None

Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study

• Downloaded 471 times
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  • Site-wide: 66,766
  • In genetic and genomic medicine: 276
• Year to date:
  • Site-wide: 78,854
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  • Site-wide: 64,693

Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium

• Downloaded 371 times
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  • Site-wide: 84,339
  • In epidemiology: 3,596
• Year to date:
  • Site-wide: 111,444
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  • Site-wide: 41,030

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 368 times
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  • Site-wide: 85,009
  • In genetics: 3,694
• Year to date:
  • Site-wide: 30,030
• Since beginning of last month:
  • Site-wide: 101,092

Proper Conditional Analysis in the Presence of Missing Data Identified Novel Independently Associated Low Frequency Variants in Nicotine Dependence Genes

• Downloaded 280 times
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  • Site-wide: 104,674
  • In genetics: 4,421
• Year to date:
  • Site-wide: 148,465
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  • Site-wide: None

Mitochondrial genome copy number in human blood-derived DNA is strongly associated with insulin levels and related metabolic traits and primarily reflects cell-type composition differences

• Downloaded 244 times
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  • Site-wide: 113,281
  • In genetic and genomic medicine: 580
• Year to date:
  • Site-wide: 48,089
• Since beginning of last month:
  • Site-wide: 66,005

Machine learning reveals time-varying microbial predictors with complex effects on glucose regulation

• Downloaded 203 times
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  • Site-wide: 123,638
  • In microbiology: 9,119
• Year to date:
  • Site-wide: 80,775
• Since beginning of last month:
  • Site-wide: 20,540

Multiparametric profiling of cellular lipid metabolism in hypercholesterolemia

• Downloaded 168 times
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  • Site-wide: 131,989
  • In cell biology: 6,086
• Year to date:
  • Site-wide: 40,772
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  • Site-wide: None

Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study

• Downloaded 52 times
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  • Site-wide: 152,281
  • In epidemiology: 6,268
• Year to date:
  • Site-wide: 112,247
• Since beginning of last month:
  • Site-wide: 9,286