Author: Markku Laakso

Downloads per author, site-wide

Preprints

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

• Downloaded 22,050 times
• Download rankings, all-time:
  • Site-wide: 310
  • In genomics: 11
• Year to date:
  • Site-wide: 22,198
• Since beginning of last month:
  • Site-wide: 15,048

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

• Downloaded 3,252 times
• Download rankings, all-time:
  • Site-wide: 3,801
  • In genomics: 421
• Year to date:
  • Site-wide: 64,475
• Since beginning of last month:
  • Site-wide: 76,308

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

• Downloaded 3,089 times
• Download rankings, all-time:
  • Site-wide: 4,084
  • In genetics: 169
• Year to date:
  • Site-wide: 58,385
• Since beginning of last month:
  • Site-wide: 70,652

Integrative approaches for large-scale transcriptome-wide association studies

• Downloaded 2,908 times
• Download rankings, all-time:
  • Site-wide: 4,428
  • In genetics: 192
• Year to date:
  • Site-wide: 45,957
• Since beginning of last month:
  • Site-wide: 59,342

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

• Downloaded 2,506 times
• Download rankings, all-time:
  • Site-wide: 5,527
  • In genetics: 251
• Year to date:
  • Site-wide: 17,564
• Since beginning of last month:
  • Site-wide: 20,803

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

• Downloaded 2,241 times
• Download rankings, all-time:
  • Site-wide: 6,508
  • In genetics: 310
• Year to date:
  • Site-wide: 3,198
• Since beginning of last month:
  • Site-wide: 4,977

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

• Downloaded 2,036 times
• Download rankings, all-time:
  • Site-wide: 7,474
  • In genetics: 346
• Year to date:
  • Site-wide: 45,218
• Since beginning of last month:
  • Site-wide: 32,112

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

• Downloaded 1,863 times
• Download rankings, all-time:
  • Site-wide: 8,548
  • In genetics: 398
• Year to date:
  • Site-wide: 77,493
• Since beginning of last month:
  • Site-wide: 48,411

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

• Downloaded 1,684 times
• Download rankings, all-time:
  • Site-wide: 9,941
  • In bioinformatics: 1,190
• Year to date:
  • Site-wide: 35,764
• Since beginning of last month:
  • Site-wide: 37,233

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

• Downloaded 1,669 times
• Download rankings, all-time:
  • Site-wide: 10,058
  • In genetics: 474
• Year to date:
  • Site-wide: 64,515
• Since beginning of last month:
  • Site-wide: 55,141

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

• Downloaded 1,662 times
• Download rankings, all-time:
  • Site-wide: 10,120
  • In genetics: 477
• Year to date:
  • Site-wide: 71,693
• Since beginning of last month:
  • Site-wide: 53,150

Reverse GWAS: Using Genetics to Identify and Model Phenotypic Subtypes

• Downloaded 1,633 times
• Download rankings, all-time:
  • Site-wide: 10,390
  • In genetics: 493
• Year to date:
  • Site-wide: 107,849
• Since beginning of last month:
  • Site-wide: 66,329

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

• Downloaded 1,444 times
• Download rankings, all-time:
  • Site-wide: 12,443
  • In genomics: 1,337
• Year to date:
  • Site-wide: 62,569
• Since beginning of last month:
  • Site-wide: 70,017

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

• Downloaded 1,200 times
• Download rankings, all-time:
  • Site-wide: 16,514
  • In genetics: 800
• Year to date:
  • Site-wide: 61,320
• Since beginning of last month:
  • Site-wide: 90,575

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

• Downloaded 1,177 times
• Download rankings, all-time:
  • Site-wide: 16,977
  • In genetic and genomic medicine: 59
• Year to date:
  • Site-wide: 6,497
• Since beginning of last month:
  • Site-wide: 4,910

Efficient estimation and applications of cross-validated genetic predictions

• Downloaded 1,088 times
• Download rankings, all-time:
  • Site-wide: 19,040
  • In genetics: 920
• Year to date:
  • Site-wide: 31,924
• Since beginning of last month:
  • Site-wide: 18,854

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 908 times
• Download rankings, all-time:
  • Site-wide: 24,821
  • In genetics: 1,188
• Year to date:
  • Site-wide: 18,967
• Since beginning of last month:
  • Site-wide: 9,474

Epigenome-wide association in adipose tissue from the METSIM cohort

• Downloaded 852 times
• Download rankings, all-time:
  • Site-wide: 27,085
  • In genetics: 1,294
• Year to date:
  • Site-wide: 59,708
• Since beginning of last month:
  • Site-wide: 43,650

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 838 times
• Download rankings, all-time:
  • Site-wide: 27,734
  • In genetics: 1,332
• Year to date:
  • Site-wide: 13,409
• Since beginning of last month:
  • Site-wide: 8,417

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

• Downloaded 824 times
• Download rankings, all-time:
  • Site-wide: 28,379
  • In genetic and genomic medicine: 91
• Year to date:
  • Site-wide: 29,384
• Since beginning of last month:
  • Site-wide: 39,163

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

• Downloaded 816 times
• Download rankings, all-time:
  • Site-wide: 28,771
  • In genetics: 1,389
• Year to date:
  • Site-wide: 108,755
• Since beginning of last month:
  • Site-wide: 126,132

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

• Downloaded 677 times
• Download rankings, all-time:
  • Site-wide: 37,197
  • In genetic and genomic medicine: 122
• Year to date:
  • Site-wide: 18,776
• Since beginning of last month:
  • Site-wide: 20,222

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

• Downloaded 663 times
• Download rankings, all-time:
  • Site-wide: 38,297
  • In genetic and genomic medicine: 127
• Year to date:
  • Site-wide: 2,572
• Since beginning of last month:
  • Site-wide: 814

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

• Downloaded 658 times
• Download rankings, all-time:
  • Site-wide: 38,640
  • In genetics: 1,824
• Year to date:
  • Site-wide: 5,609
• Since beginning of last month:
  • Site-wide: 14,114

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

• Downloaded 592 times
• Download rankings, all-time:
  • Site-wide: 44,171
  • In genetics: 2,056
• Year to date:
  • Site-wide: 112,806
• Since beginning of last month:
  • Site-wide: 118,250

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

• Downloaded 577 times
• Download rankings, all-time:
  • Site-wide: 45,645
  • In genetics: 2,128
• Year to date:
  • Site-wide: 124,286
• Since beginning of last month:
  • Site-wide: 132,162

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

• Downloaded 520 times
• Download rankings, all-time:
  • Site-wide: 51,765
  • In genetics: 2,393
• Year to date:
  • Site-wide: 107,419
• Since beginning of last month:
  • Site-wide: 91,402

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

• Downloaded 428 times
• Download rankings, all-time:
  • Site-wide: 63,987
  • In genetic and genomic medicine: 219
• Year to date:
  • Site-wide: 68,848
• Since beginning of last month:
  • Site-wide: 55,835

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 341 times
• Download rankings, all-time:
  • Site-wide: 78,995
  • In epidemiology: 3,288
• Year to date:
  • Site-wide: 104,337
• Since beginning of last month:
  • Site-wide: 95,104

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 331 times
• Download rankings, all-time:
  • Site-wide: 80,910
  • In genetics: 3,659
• Year to date:
  • Site-wide: 16,133
• Since beginning of last month:
  • Site-wide: 11,190

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

• Downloaded 272 times
• Download rankings, all-time:
  • Site-wide: 93,340
  • In genetics: 4,169
• Year to date:
  • Site-wide: 121,956
• Since beginning of last month:
  • Site-wide: 70,718

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 189 times
• Download rankings, all-time:
  • Site-wide: 112,045
  • In genetic and genomic medicine: 512
• Year to date:
  • Site-wide: 36,046
• Since beginning of last month:
  • Site-wide: 33,170

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

• Downloaded 151 times
• Download rankings, all-time:
  • Site-wide: 120,203
  • In microbiology: 9,080
• Year to date:
  • Site-wide: 84,969
• Since beginning of last month:
  • Site-wide: 108,966

Multiparametric assessment of cellular lipid metabolism in hypercholesterolemia

• Downloaded 86 times
• Download rankings, all-time:
  • Site-wide: 132,500
  • In cell biology: 6,056
• Year to date:
  • Site-wide: 37,812
• Since beginning of last month:
  • Site-wide: 5,883