Author: Tom R Gaunt

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Preprints

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

• Downloaded 7,568 times
• Download rankings, all-time:
  • Site-wide: 1,942
  • In bioinformatics: 99
• Year to date:
  • Site-wide: 84,782
• Since beginning of last month:
  • Site-wide: None

Automating Mendelian randomization through machine learning to construct a putative causal map of the human phenome

• Downloaded 4,525 times
• Download rankings, all-time:
  • Site-wide: 3,900
  • In epidemiology: 419
• Year to date:
  • Site-wide: 8,062
• Since beginning of last month:
  • Site-wide: 4,824

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

• Downloaded 4,470 times
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  • Site-wide: 3,960
  • In genetics: 112
• Year to date:
  • Site-wide: 24,304
• Since beginning of last month:
  • Site-wide: 12,118

Brain expression quantitative trait locus and network analysis reveals downstream effects and putative drivers for brain-related diseases

• Downloaded 3,205 times
• Download rankings, all-time:
  • Site-wide: 6,470
  • In genomics: 716
• Year to date:
  • Site-wide: 2,552
• Since beginning of last month:
  • Site-wide: 1,916

Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases

• Downloaded 2,543 times
• Download rankings, all-time:
  • Site-wide: 9,063
  • In genetic and genomic medicine: 58
• Year to date:
  • Site-wide: 828
• Since beginning of last month:
  • Site-wide: 5,732

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

• Downloaded 2,214 times
• Download rankings, all-time:
  • Site-wide: 11,184
  • In neurology: 33
• Year to date:
  • Site-wide: 17,352
• Since beginning of last month:
  • Site-wide: 52,393

Using genetic variation to disentangle the complex relationship between food intake and health outcomes.

• Downloaded 1,782 times
• Download rankings, all-time:
  • Site-wide: 15,573
  • In genetics: 621
• Year to date:
  • Site-wide: 47,899
• Since beginning of last month:
  • Site-wide: 47,536

A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

• Downloaded 1,720 times
• Download rankings, all-time:
  • Site-wide: 16,387
  • In genetics: 644
• Year to date:
  • Site-wide: 159,903
• Since beginning of last month:
  • Site-wide: 101,921

Sex-associated autosomal DNA methylation differences are wide-spread and stable throughout childhood

• Downloaded 1,487 times
• Download rankings, all-time:
  • Site-wide: 20,656
  • In epidemiology: 1,328
• Year to date:
  • Site-wide: 75,611
• Since beginning of last month:
  • Site-wide: 31,364

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

• Downloaded 1,459 times
• Download rankings, all-time:
  • Site-wide: 21,275
  • In genetic and genomic medicine: 121
• Year to date:
  • Site-wide: 55,185
• Since beginning of last month:
  • Site-wide: 156,693

Searching for the causal effects of BMI in over 300 000 individuals, using Mendelian randomization

• Downloaded 1,439 times
• Download rankings, all-time:
  • Site-wide: 21,733
  • In epidemiology: 1,354
• Year to date:
  • Site-wide: 189,735
• Since beginning of last month:
  • Site-wide: 48,957

PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics

• Downloaded 1,229 times
• Download rankings, all-time:
  • Site-wide: 27,954
  • In bioinformatics: 2,983
• Year to date:
  • Site-wide: 107,948
• Since beginning of last month:
  • Site-wide: 13,571

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

• Downloaded 1,106 times
• Download rankings, all-time:
  • Site-wide: 32,967
  • In genetics: 1,306
• Year to date:
  • Site-wide: 50,841
• Since beginning of last month:
  • Site-wide: 86,853

The variant call format provides efficient and robust storage of GWAS summary statistics

• Downloaded 999 times
• Download rankings, all-time:
  • Site-wide: 38,514
  • In genetics: 1,542
• Year to date:
  • Site-wide: 71,417
• Since beginning of last month:
  • Site-wide: None

An atlas of associations between polygenic risk scores from across the human phenome and circulating metabolic biomarkers

• Downloaded 967 times
• Download rankings, all-time:
  • Site-wide: 40,492
  • In genetic and genomic medicine: 297
• Year to date:
  • Site-wide: 14,607
• Since beginning of last month:
  • Site-wide: 30,180

The network of SARS-CoV-2-cancer molecular interactions and pathways

• Downloaded 920 times
• Download rankings, all-time:
  • Site-wide: 43,703
  • In cancer biology: 1,271
• Year to date:
  • Site-wide: 3,963
• Since beginning of last month:
  • Site-wide: 87,125

A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance

• Downloaded 813 times
• Download rankings, all-time:
  • Site-wide: 52,714
  • In pharmacology and therapeutics: 69
• Year to date:
  • Site-wide: 37,273
• Since beginning of last month:
  • Site-wide: 96,376

Prioritizing putative influential genes in early life cardiovascular disease susceptibility by applying tissue-specific Mendelian randomization

• Downloaded 808 times
• Download rankings, all-time:
  • Site-wide: 53,217
  • In genetics: 2,058
• Year to date:
  • Site-wide: 153,369
• Since beginning of last month:
  • Site-wide: 79,403

Appraising the causal relevance of DNA methylation for risk of lung cancer

• Downloaded 762 times
• Download rankings, all-time:
  • Site-wide: 57,990
  • In epidemiology: 2,759
• Year to date:
  • Site-wide: 122,829
• Since beginning of last month:
  • Site-wide: 39,590

A factorial Mendelian randomization study to systematically prioritize genetic targets for the treatment of cardiovascular disease

• Downloaded 687 times
• Download rankings, all-time:
  • Site-wide: 67,279
  • In genetic and genomic medicine: 412
• Year to date:
  • Site-wide: 76,173
• Since beginning of last month:
  • Site-wide: 41,190

Epigenome-wide change and variation in DNA methylation from birth to late adolescence

• Downloaded 646 times
• Download rankings, all-time:
  • Site-wide: 73,225
  • In genomics: 4,821
• Year to date:
  • Site-wide: 174,158
• Since beginning of last month:
  • Site-wide: 111,553

Epigenome-Wide Association Study Of Asthma And Wheeze In Childhood And Adolescence

• Downloaded 582 times
• Download rankings, all-time:
  • Site-wide: 83,619
  • In epidemiology: 3,665
• Year to date:
  • Site-wide: 189,421
• Since beginning of last month:
  • Site-wide: 80,121

Cholesteryl Ester Transfer Protein as a Drug Target

• Downloaded 580 times
• Download rankings, all-time:
  • Site-wide: 83,966
  • In cardiovascular medicine: 185
• Year to date:
  • Site-wide: 139,761
• Since beginning of last month:
  • Site-wide: 110,023

Navigating sample overlap, winner's curse and weak instrument bias in Mendelian randomization studies using the UK Biobank

• Downloaded 575 times
• Download rankings, all-time:
  • Site-wide: 85,017
  • In epidemiology: 4,350
• Year to date:
  • Site-wide: 15,361
• Since beginning of last month:
  • Site-wide: 14,103

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

• Downloaded 535 times
• Download rankings, all-time:
  • Site-wide: 92,795
  • In genomics: 5,580
• Year to date:
  • Site-wide: 201,890
• Since beginning of last month:
  • Site-wide: 78,786

Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics

• Downloaded 507 times
• Download rankings, all-time:
  • Site-wide: 98,735
  • In genetics: 3,660
• Year to date:
  • Site-wide: 199,575
• Since beginning of last month:
  • Site-wide: 181,217

Triangulating molecular evidence to prioritise candidate causal genes at established atopic dermatitis loci

• Downloaded 490 times
• Download rankings, all-time:
  • Site-wide: 102,547
  • In genetic and genomic medicine: 636
• Year to date:
  • Site-wide: 112,069
• Since beginning of last month:
  • Site-wide: 112,884

Smoking, DNA methylation and lung function: a Mendelian randomization analysis to investigate causal relationships

• Downloaded 484 times
• Download rankings, all-time:
  • Site-wide: 104,058
  • In genetic and genomic medicine: 642
• Year to date:
  • Site-wide: 135,496
• Since beginning of last month:
  • Site-wide: 89,248

Diagnosis of coronary heart diseases using gene expression profiling; stable coronary artery disease, cardiac ischemia with and without myocardial necrosis

• Downloaded 484 times
• Download rankings, all-time:
  • Site-wide: 104,126
  • In bioinformatics: 8,556
• Year to date:
  • Site-wide: 206,565
• Since beginning of last month:
  • Site-wide: 173,760

Association of changing physical activity intensity and bout length with mortality: a study of 79,507 participants in UK Biobank

• Downloaded 465 times
• Download rankings, all-time:
  • Site-wide: 108,551
  • In epidemiology: 4,534
• Year to date:
  • Site-wide: 151,737
• Since beginning of last month:
  • Site-wide: None

Hypothesis-free detection of gene-interaction effects on biomarker concentration in UK Biobank using variance prioritisation

• Downloaded 452 times
• Download rankings, all-time:
  • Site-wide: 111,465
  • In genetic and genomic medicine: 811
• Year to date:
  • Site-wide: 12,793
• Since beginning of last month:
  • Site-wide: 22,417

The effect of circulating zinc, selenium, copper and vitamin K1 on COVID-19 outcomes: a Mendelian randomization study

• Downloaded 399 times
• Download rankings, all-time:
  • Site-wide: 125,558
  • In epidemiology: 5,434
• Year to date:
  • Site-wide: 54,325
• Since beginning of last month:
  • Site-wide: 117,137

An Informatics Consult approach for generating clinical evidence for treatment decisions

• Downloaded 357 times
• Download rankings, all-time:
  • Site-wide: 137,718
  • In health informatics: 615
• Year to date:
  • Site-wide: 163,763
• Since beginning of last month:
  • Site-wide: None

Characterizing the human methylome across the life course: findings from eight UK-based studies

• Downloaded 341 times
• Download rankings, all-time:
  • Site-wide: 142,458
  • In genetics: 5,505
• Year to date:
  • Site-wide: 84,026
• Since beginning of last month:
  • Site-wide: 30,047

Evaluating the efficacy and mechanism of metformin targets on reducing Alzheimers disease risk in the general population: a Mendelian randomization study

• Downloaded 337 times
• Download rankings, all-time:
  • Site-wide: 143,671
  • In epidemiology: 6,205
• Year to date:
  • Site-wide: 20,836
• Since beginning of last month:
  • Site-wide: 52,593

Systematic comparison of Mendelian randomization studies and randomized controlled trials using electronic databases

• Downloaded 326 times
• Download rankings, all-time:
  • Site-wide: 146,858
  • In epidemiology: 6,597
• Year to date:
  • Site-wide: 21,900
• Since beginning of last month:
  • Site-wide: 26,407

EpiGraphDB: a database and data mining platform for health data science

• Downloaded 323 times
• Download rankings, all-time:
  • Site-wide: 147,850
  • In bioinformatics: 11,266
• Year to date:
  • Site-wide: 184,456
• Since beginning of last month:
  • Site-wide: 114,781

Evidence of positive and negative selection associated with DNA methylation

• Downloaded 317 times
• Download rankings, all-time:
  • Site-wide: 149,776
  • In genetics: 5,625
• Year to date:
  • Site-wide: 82,152
• Since beginning of last month:
  • Site-wide: 169,616

An efficient and robust tool for colocalisation: Pair-wise Conditional and Colocalisation (PWCoCo)

• Downloaded 295 times
• Download rankings, all-time:
  • Site-wide: 156,320
  • In bioinformatics: 14,288
• Year to date:
  • Site-wide: 25,783
• Since beginning of last month:
  • Site-wide: 173,157

Genetic effect modification of cis-acting C-reactive protein variants in cardiometabolic disease status

• Downloaded 274 times
• Download rankings, all-time:
  • Site-wide: 162,249
  • In genetics: 6,059
• Year to date:
  • Site-wide: 61,651
• Since beginning of last month:
  • Site-wide: 18,824

Exploring the variance in complex traits captured by DNA methylation assays

• Downloaded 273 times
• Download rankings, all-time:
  • Site-wide: 162,607
  • In genetics: 6,065
• Year to date:
  • Site-wide: 135,354
• Since beginning of last month:
  • Site-wide: 42,357

Evaluating and implementing block jackknife resampling Mendelian randomization to mitigate bias induced by overlapping samples

• Downloaded 270 times
• Download rankings, all-time:
  • Site-wide: 163,612
  • In genetic and genomic medicine: 1,192
• Year to date:
  • Site-wide: 43,814
• Since beginning of last month:
  • Site-wide: 44,274

Evaluating the potential benefits and pitfalls of combining protein and expression quantitative trait loci in evidencing drug targets

• Downloaded 261 times
• Download rankings, all-time:
  • Site-wide: 166,216
  • In genetics: 6,247
• Year to date:
  • Site-wide: 31,076
• Since beginning of last month:
  • Site-wide: 85,955

DNA co-methylation has a stable structure and is related to specific aspects of genome regulation

• Downloaded 251 times
• Download rankings, all-time:
  • Site-wide: 168,863
  • In bioinformatics: 12,764
• Year to date:
  • Site-wide: 32,754
• Since beginning of last month:
  • Site-wide: 71,398

Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study

• Downloaded 197 times
• Download rankings, all-time:
  • Site-wide: 182,732
  • In epidemiology: 7,443
• Year to date:
  • Site-wide: 46,361
• Since beginning of last month:
  • Site-wide: 19,118

Triangulating evidence in health sciences with Annotated Semantic Queries

• Downloaded 177 times
• Download rankings, all-time:
  • Site-wide: 187,303
  • In health informatics: 882
• Year to date:
  • Site-wide: 53,791
• Since beginning of last month:
  • Site-wide: 71,575

A comparison of the genes and genesets identified by EWAS and GWAS of fourteen complex traits

• Downloaded 175 times
• Download rankings, all-time:
  • Site-wide: 187,752
  • In epidemiology: 7,415
• Year to date:
  • Site-wide: 54,544
• Since beginning of last month:
  • Site-wide: 26,906

Separating the direct effects of risk factors for atherosclerotic cardiovascular disease from those mediated by type 2 diabetes

• Downloaded 167 times
• Download rankings, all-time:
  • Site-wide: 189,493
  • In epidemiology: 7,412
• Year to date:
  • Site-wide: 152,918
• Since beginning of last month:
  • Site-wide: 150,778

Genetically proxied PCSK9 inhibition provides indication of lower prostate cancer risk: a Mendelian randomization study

• Downloaded 161 times
• Download rankings, all-time:
  • Site-wide: 190,619
  • In oncology: 729
• Year to date:
  • Site-wide: 60,209
• Since beginning of last month:
  • Site-wide: None

Integrating Mendelian randomization and literature-mined evidence for breast cancer risk factors

• Downloaded 144 times
• Download rankings, all-time:
  • Site-wide: 193,770
  • In epidemiology: 7,901
• Year to date:
  • Site-wide: 68,093
• Since beginning of last month:
  • Site-wide: 15,532

Biomedical consequences of elevated cholesterol-containing lipoproteins and apolipoproteins

• Downloaded 140 times
• Download rankings, all-time:
  • Site-wide: 194,522
  • In cardiovascular medicine: 694
• Year to date:
  • Site-wide: 69,533
• Since beginning of last month:
  • Site-wide: 137,336

Automated development of clinical prediction models enables real-time risk stratification with exemplar application to hypoxic-ischaemic encephalopathy

• Downloaded 133 times
• Download rankings, all-time:
  • Site-wide: 195,838
  • In health informatics: 928
• Year to date:
  • Site-wide: 73,410
• Since beginning of last month:
  • Site-wide: 17,139

Using language models and ontology topology to perform semantic mapping of traits between biomedical datasets

• Downloaded 110 times
• Download rankings, all-time:
  • Site-wide: 199,706
  • In bioinformatics: None
• Year to date:
  • Site-wide: 87,228
• Since beginning of last month:
  • Site-wide: 22,733

Examining the evidence for Mendelian randomization homogeneity assumption violation using instrument association with exposure variance

• Downloaded 58 times
• Download rankings, all-time:
  • Site-wide: 207,535
  • In epidemiology: None
• Year to date:
  • Site-wide: 151,349
• Since beginning of last month:
  • Site-wide: 121,827