Author: Markku Laakso

Downloads per author, site-wide

Preprints

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

• Downloaded 21,936 times
• Download rankings, all-time:
  • Site-wide: 290
  • In genomics: 11
• Year to date:
  • Site-wide: 44,836
• Since beginning of last month:
  • Site-wide: 44,836

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 3,223 times
• Download rankings, all-time:
  • Site-wide: 3,484
  • In genomics: 397
• Year to date:
  • Site-wide: 60,991
• Since beginning of last month:
  • Site-wide: 60,991

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

• Downloaded 3,069 times
• Download rankings, all-time:
  • Site-wide: 3,724
  • In genetics: 166
• Year to date:
  • Site-wide: 34,847
• Since beginning of last month:
  • Site-wide: 34,847

Integrative approaches for large-scale transcriptome-wide association studies

• Downloaded 2,879 times
• Download rankings, all-time:
  • Site-wide: 4,045
  • In genetics: 185
• Year to date:
  • Site-wide: 28,540
• Since beginning of last month:
  • Site-wide: 28,540

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

• Downloaded 2,418 times
• Download rankings, all-time:
  • Site-wide: 5,266
  • In genetics: 248
• Year to date:
  • Site-wide: 13,638
• Since beginning of last month:
  • Site-wide: 13,638

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

• Downloaded 1,989 times
• Download rankings, all-time:
  • Site-wide: 6,943
  • In genetics: 341
• Year to date:
  • Site-wide: 47,466
• Since beginning of last month:
  • Site-wide: 47,466

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

• Downloaded 1,971 times
• Download rankings, all-time:
  • Site-wide: 7,052
  • In genetics: 343
• Year to date:
  • Site-wide: 2,314
• Since beginning of last month:
  • Site-wide: 2,314

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

• Downloaded 1,826 times
• Download rankings, all-time:
  • Site-wide: 7,912
  • In genetics: 385
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 1,641 times
• Download rankings, all-time:
  • Site-wide: 9,344
  • In bioinformatics: 1,148
• Year to date:
  • Site-wide: 23,914
• Since beginning of last month:
  • Site-wide: 23,914

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

• Downloaded 1,637 times
• Download rankings, all-time:
  • Site-wide: 9,393
  • In genetics: 462
• Year to date:
  • Site-wide: 70,723
• Since beginning of last month:
  • Site-wide: 70,723

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

• Downloaded 1,637 times
• Download rankings, all-time:
  • Site-wide: 9,396
  • In genetics: 463
• Year to date:
  • Site-wide: 67,544
• Since beginning of last month:
  • Site-wide: 67,544

Reverse GWAS: Using Genetics to Identify and Model Phenotypic Subtypes

• Downloaded 1,614 times
• Download rankings, all-time:
  • Site-wide: 9,589
  • In genetics: 479
• Year to date:
  • Site-wide: 120,637
• Since beginning of last month:
  • Site-wide: 120,637

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

• Downloaded 1,425 times
• Download rankings, all-time:
  • Site-wide: 11,489
  • In genomics: 1,282
• Year to date:
  • Site-wide: 38,399
• Since beginning of last month:
  • Site-wide: 38,399

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

• Downloaded 1,187 times
• Download rankings, all-time:
  • Site-wide: 15,124
  • In genetics: 778
• Year to date:
  • Site-wide: 30,883
• Since beginning of last month:
  • Site-wide: 30,883

Efficient estimation and applications of cross-validated genetic predictions

• Downloaded 1,010 times
• Download rankings, all-time:
  • Site-wide: 19,313
  • In genetics: 963
• Year to date:
  • Site-wide: 50,492
• Since beginning of last month:
  • Site-wide: 50,492

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

• Downloaded 980 times
• Download rankings, all-time:
  • Site-wide: 20,101
  • In genetic and genomic medicine: 60
• Year to date:
  • Site-wide: 6,026
• Since beginning of last month:
  • Site-wide: 6,026

Epigenome-wide association in adipose tissue from the METSIM cohort

• Downloaded 824 times
• Download rankings, all-time:
  • Site-wide: 25,786
  • In genetics: 1,287
• Year to date:
  • Site-wide: 50,984
• Since beginning of last month:
  • Site-wide: 50,984

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

• Downloaded 810 times
• Download rankings, all-time:
  • Site-wide: 26,365
  • In genetics: 1,318
• Year to date:
  • Site-wide: 70,758
• Since beginning of last month:
  • Site-wide: 70,758

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 794 times
• Download rankings, all-time:
  • Site-wide: 27,112
  • In genetics: 1,351
• Year to date:
  • Site-wide: 25,949
• Since beginning of last month:
  • Site-wide: 25,949

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

• Downloaded 765 times
• Download rankings, all-time:
  • Site-wide: 28,550
  • In genetic and genomic medicine: 82
• Year to date:
  • Site-wide: 23,058
• Since beginning of last month:
  • Site-wide: 23,058

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 711 times
• Download rankings, all-time:
  • Site-wide: 31,667
  • In genetics: 1,574
• Year to date:
  • Site-wide: 13,379
• Since beginning of last month:
  • Site-wide: 13,379

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

• Downloaded 606 times
• Download rankings, all-time:
  • Site-wide: 39,017
  • In genetic and genomic medicine: 111
• Year to date:
  • Site-wide: 11,904
• Since beginning of last month:
  • Site-wide: 11,904

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

• Downloaded 585 times
• Download rankings, all-time:
  • Site-wide: 40,803
  • In genetics: 1,967
• Year to date:
  • Site-wide: 79,455
• Since beginning of last month:
  • Site-wide: 79,455

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

• Downloaded 570 times
• Download rankings, all-time:
  • Site-wide: 42,155
  • In genetics: 2,031
• Year to date:
  • Site-wide: 104,883
• Since beginning of last month:
  • Site-wide: 104,883

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

• Downloaded 511 times
• Download rankings, all-time:
  • Site-wide: 48,153
  • In genetics: 2,305
• Year to date:
  • Site-wide: 78,226
• Since beginning of last month:
  • Site-wide: 78,226

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

• Downloaded 504 times
• Download rankings, all-time:
  • Site-wide: 48,957
  • In genetics: 2,342
• Year to date:
  • Site-wide: 3,350
• Since beginning of last month:
  • Site-wide: 3,350

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

• Downloaded 398 times
• Download rankings, all-time:
  • Site-wide: 63,044
  • In genetic and genomic medicine: 187
• Year to date:
  • Site-wide: 81,510
• Since beginning of last month:
  • Site-wide: 81,510

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 332 times
• Download rankings, all-time:
  • Site-wide: 73,947
  • In epidemiology: 3,060
• Year to date:
  • Site-wide: 77,335
• Since beginning of last month:
  • Site-wide: 77,335

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

• Downloaded 263 times
• Download rankings, all-time:
  • Site-wide: 87,744
  • In genetics: 4,025
• Year to date:
  • Site-wide: 106,980
• Since beginning of last month:
  • Site-wide: 106,980

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 225 times
• Download rankings, all-time:
  • Site-wide: 96,043
  • In genetics: 4,372
• Year to date:
  • Site-wide: 14,970
• Since beginning of last month:
  • Site-wide: 14,970

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

• Downloaded 139 times
• Download rankings, all-time:
  • Site-wide: 113,662
  • In microbiology: 8,603
• Year to date:
  • Site-wide: 56,438
• Since beginning of last month:
  • Site-wide: 56,438

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 135 times
• Download rankings, all-time:
  • Site-wide: 114,474
  • In genetic and genomic medicine: 501
• Year to date:
  • Site-wide: 32,678
• Since beginning of last month:
  • Site-wide: 32,678