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Author: Mark I McCarthy

Rankings

  • All-time downloads: 86,334 (rank: 1,613 )
  • Categories:
    • bioinformatics: 4,315 (rank: 2,965 (tie) )
    • cancer biology: 914 (rank: 9,467 (tie) )
    • endocrinology: 852 (rank: 150 )
    • epidemiology: 737 (rank: 12,379 (tie) )
    • genetic and genomic medicine: 6,608 (rank: 117 )
    • genetics: 39,358 (rank: 123 )
    • genomics: 33,550 (rank: 293 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
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    • Site-wide: 329
    • In genomics: 12
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    • Site-wide: 28,365
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    • Site-wide: 51,382

Detection of human adaptation during the past 2,000 years

genetics more details view paper
  • Downloaded 16,664 times
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    • Site-wide: 445
    • In genetics: 11
  • Year to date:
    • Site-wide: 20,178
  • Since beginning of last month:
    • Site-wide: 11,587

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

genomics more details view paper
  • Downloaded 3,267 times
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    • Site-wide: 4,018
    • In genomics: 434
  • Year to date:
    • Site-wide: 71,051
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    • Site-wide: 80,014

Genome-wide association study identifies 48 common genetic variants associated with handedness

genetics more details view paper
  • Downloaded 2,630 times
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    • Site-wide: 5,460
    • In genetics: 240
  • Year to date:
    • Site-wide: 25,124
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    • Site-wide: 26,484

Improving reporting standards for polygenic scores in risk prediction studies

genetic and genomic medicine more details view paper
  • Downloaded 2,330 times
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    • Site-wide: 6,558
    • In genetic and genomic medicine: 27
  • Year to date:
    • Site-wide: 2,985
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    • Site-wide: 6,648

An Effector Index to Predict Causal Genes at GWAS Loci

bioinformatics more details view paper
  • Downloaded 2,130 times
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    • Site-wide: 7,472
    • In bioinformatics: 865
  • Year to date:
    • Site-wide: 7,815
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    • Site-wide: 10,577

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

genetics more details view paper
  • Downloaded 1,870 times
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    • Site-wide: 9,051
    • In genetics: 407
  • Year to date:
    • Site-wide: 91,357
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    • Site-wide: 108,183

Identification of type 2 diabetes loci in 433,540 East Asian individuals

genetics more details view paper
  • Downloaded 1,852 times
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    • Site-wide: 9,196
    • In genetics: 414
  • Year to date:
    • Site-wide: 39,832
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    • Site-wide: 51,114

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

genetics more details view paper
  • Downloaded 1,705 times
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    • Site-wide: 10,382
    • In genetics: 475
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    • Site-wide: 55,564
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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

genetics more details view paper
  • Downloaded 1,675 times
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    • Site-wide: 10,643
    • In genetics: 489
  • Year to date:
    • Site-wide: 78,783
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    • Site-wide: 82,524

Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes

genomics more details view paper
  • Downloaded 1,622 times
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    • Site-wide: 11,165
    • In genomics: 1,174
  • Year to date:
    • Site-wide: 38,833
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    • Site-wide: 70,183

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,469 times
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    • Site-wide: 12,927
    • In genomics: 1,359
  • Year to date:
    • Site-wide: 93,041
  • Since beginning of last month:
    • Site-wide: 138,140

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

genetics more details view paper
  • Downloaded 1,434 times
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    • Site-wide: 13,442
    • In genetics: 630
  • Year to date:
    • Site-wide: 89,126
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    • Site-wide: 115,393

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

bioinformatics more details view paper
  • Downloaded 1,434 times
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    • Site-wide: 13,434
    • In bioinformatics: 1,582
  • Year to date:
    • Site-wide: 78,541
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    • Site-wide: 59,569

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

genetic and genomic medicine more details view paper
  • Downloaded 1,288 times
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    • Site-wide: 15,763
    • In genetic and genomic medicine: 61
  • Year to date:
    • Site-wide: 6,789
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    • Site-wide: 7,110

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

genomics more details view paper
  • Downloaded 1,256 times
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    • Site-wide: 16,374
    • In genomics: 1,634
  • Year to date:
    • Site-wide: 99,766
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    • Site-wide: 99,691

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

genetics more details view paper
  • Downloaded 1,217 times
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    • Site-wide: 17,183
    • In genetics: 818
  • Year to date:
    • Site-wide: 91,170
  • Since beginning of last month:
    • Site-wide: 89,127

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

genomics more details view paper
  • Downloaded 1,198 times
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    • Site-wide: 17,545
    • In genomics: 1,758
  • Year to date:
    • Site-wide: 66,932
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    • Site-wide: 91,576

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

genetics more details view paper
  • Downloaded 1,194 times
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    • Site-wide: 17,641
    • In genetics: 839
  • Year to date:
    • Site-wide: 89,248
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    • Site-wide: 109,633

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

genetics more details view paper
  • Downloaded 1,149 times
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    • Site-wide: 18,699
    • In genetics: 889
  • Year to date:
    • Site-wide: 92,902
  • Since beginning of last month:
    • Site-wide: 99,250

A multi-omic integrative scheme characterizes tissues of action at loci associated with type 2 diabetes

genetics more details view paper
  • Downloaded 1,092 times
  • Download rankings, all-time:
    • Site-wide: 20,161
    • In genetics: 951
  • Year to date:
    • Site-wide: 53,247
  • Since beginning of last month:
    • Site-wide: 54,638

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

genetics more details view paper
  • Downloaded 1,051 times
  • Download rankings, all-time:
    • Site-wide: 21,289
    • In genetics: 998
  • Year to date:
    • Site-wide: 78,554
  • Since beginning of last month:
    • Site-wide: 91,424

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,031 times
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    • Site-wide: 21,923
    • In genetics: 1,026
  • Year to date:
    • Site-wide: 8,296
  • Since beginning of last month:
    • Site-wide: 4,538

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

genomics more details view paper
  • Downloaded 1,013 times
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    • Site-wide: 22,509
    • In genomics: 2,172
  • Year to date:
    • Site-wide: 113,144
  • Since beginning of last month:
    • Site-wide: 117,032

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 949 times
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    • Site-wide: 24,783
    • In genetics: 1,163
  • Year to date:
    • Site-wide: 21,616
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    • Site-wide: 33,781

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

genetic and genomic medicine more details view paper
  • Downloaded 943 times
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    • Site-wide: 25,017
    • In genetic and genomic medicine: 93
  • Year to date:
    • Site-wide: 2,420
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    • Site-wide: 2,315

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

cancer biology more details view paper
  • Downloaded 914 times
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    • Site-wide: 26,121
    • In cancer biology: 646
  • Year to date:
    • Site-wide: 50,706
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    • Site-wide: 40,524

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

genetic and genomic medicine more details view paper
  • Downloaded 874 times
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    • Site-wide: 27,801
    • In genetic and genomic medicine: 101
  • Year to date:
    • Site-wide: 28,531
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    • Site-wide: 21,023

A general framework for predicting the transcriptomic consequences of non-coding variation

genetics more details view paper
  • Downloaded 821 times
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    • Site-wide: 30,358
    • In genetics: 1,433
  • Year to date:
    • Site-wide: 113,671
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    • Site-wide: 141,883

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

bioinformatics more details view paper
  • Downloaded 751 times
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    • Site-wide: 34,313
    • In bioinformatics: 3,798
  • Year to date:
    • Site-wide: 111,589
  • Since beginning of last month:
    • Site-wide: 102,936

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

genetics more details view paper
  • Downloaded 733 times
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    • Site-wide: 35,514
    • In genetics: 1,659
  • Year to date:
    • Site-wide: 59,340
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    • Site-wide: 51,413

A multi-tissue transcriptome analysis of human metabolites guides the interpretability of associations based on multi-SNP models for gene expression

genomics more details view paper
  • Downloaded 720 times
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    • Site-wide: 36,425
    • In genomics: 3,083
  • Year to date:
    • Site-wide: 128,182
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    • Site-wide: 103,886

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

genetics more details view paper
  • Downloaded 713 times
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    • Site-wide: 36,847
    • In genetics: 1,720
  • Year to date:
    • Site-wide: 7,231
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    • Site-wide: 18,450

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

genomics more details view paper
  • Downloaded 640 times
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    • Site-wide: 42,550
    • In genomics: 3,469
  • Year to date:
    • Site-wide: 110,095
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    • Site-wide: 95,554

Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

endocrinology more details view paper
  • Downloaded 558 times
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    • Site-wide: 50,495
    • In endocrinology: 29
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    • Site-wide: 58,804
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    • Site-wide: 47,602

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

genetics more details view paper
  • Downloaded 519 times
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    • Site-wide: 54,929
    • In genetics: 2,483
  • Year to date:
    • Site-wide: 129,192
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    • Site-wide: 138,803

Analysis of overlapping genetic association in type 1 and type 2 diabetes

genetics more details view paper
  • Downloaded 480 times
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    • Site-wide: 60,116
    • In genetics: 2,725
  • Year to date:
    • Site-wide: 19,650
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    • Site-wide: 47,369

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

genetic and genomic medicine more details view paper
  • Downloaded 443 times
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    • Site-wide: 65,400
    • In genetic and genomic medicine: 247
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    • Site-wide: 74,606
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    • Site-wide: 66,472

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

genetics more details view paper
  • Downloaded 411 times
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    • Site-wide: 70,576
    • In genetics: 3,171
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    • Site-wide: 109,410
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    • Site-wide: 110,259

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

genetic and genomic medicine more details view paper
  • Downloaded 404 times
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    • Site-wide: 71,655
    • In genetic and genomic medicine: 272
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    • Site-wide: 22,861
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    • Site-wide: 21,755

Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a Mendelian randomization analysis using outcomes in first-degree relatives

epidemiology more details view paper
  • Downloaded 383 times
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    • Site-wide: 75,325
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    • Site-wide: 49,264

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

epidemiology more details view paper
  • Downloaded 354 times
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    • Site-wide: 80,783
    • In epidemiology: 3,390
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    • Site-wide: 102,720
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    • Site-wide: 116,717

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

genetic and genomic medicine more details view paper
  • Downloaded 326 times
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    • Site-wide: 86,366
    • In genetic and genomic medicine: 347
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    • Site-wide: 11,081
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    • Site-wide: 6,055

Multifaceted genome-wide study identifies novel regulatory loci for body mass index in Indians

genomics more details view paper
  • Downloaded 295 times
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    • Site-wide: 93,256
    • In genomics: 5,779
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    • Site-wide: 62,483
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    • Site-wide: 50,935

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 294 times
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    • Site-wide: 93,457
    • In endocrinology: 68
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    • Site-wide: 43,076

Common maternal and fetal genetic variants show expected polygenic effects on the probability of being born small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

genetics more details view paper
  • Downloaded 168 times
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    • Site-wide: 122,686
    • In genetics: 5,153
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    • Site-wide: 115,981
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    • Site-wide: 84,871

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