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Author: Mark I McCarthy

Rankings

  • All-time downloads: 83,513 (rank: 1,618 )
  • Categories:
    • bioinformatics: 4,127 (rank: 2,952 )
    • cancer biology: 878 (rank: 9,143 (tie) )
    • endocrinology: 777 (rank: 123 )
    • epidemiology: 696 (rank: 11,720 (tie) )
    • genetic and genomic medicine: 5,279 (rank: 115 )
    • genetics: 38,435 (rank: 125 )
    • genomics: 33,321 (rank: 262 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 22,018 times
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    • Site-wide: 307
    • In genomics: 11
  • Year to date:
    • Site-wide: 23,912
  • Since beginning of last month:
    • Site-wide: 19,433

Detection of human adaptation during the past 2,000 years

genetics more details view paper
  • Downloaded 16,558 times
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    • Site-wide: 410
    • In genetics: 10
  • Year to date:
    • Site-wide: 24,654
  • Since beginning of last month:
    • Site-wide: 22,237

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 3,247 times
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    • Site-wide: 3,700
    • In genomics: 417
  • Year to date:
    • Site-wide: 59,349
  • Since beginning of last month:
    • Site-wide: 43,131

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

genetics more details view paper
  • Downloaded 2,567 times
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    • Site-wide: 5,167
    • In genetics: 235
  • Year to date:
    • Site-wide: 22,449
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    • Site-wide: 26,966

Improving reporting standards for polygenic scores in risk prediction studies

genetic and genomic medicine more details view paper
  • Downloaded 2,111 times
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    • Site-wide: 6,900
    • In genetic and genomic medicine: 23
  • Year to date:
    • Site-wide: 2,370
  • Since beginning of last month:
    • Site-wide: 1,793

An Effector Index to Predict Causal Genes at GWAS Loci

bioinformatics more details view paper
  • Downloaded 1,998 times
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    • Site-wide: 7,471
    • In bioinformatics: 896
  • Year to date:
    • Site-wide: 6,690
  • Since beginning of last month:
    • Site-wide: 12,004

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

genetics more details view paper
  • Downloaded 1,851 times
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    • Site-wide: 8,394
    • In genetics: 393
  • Year to date:
    • Site-wide: 88,409
  • Since beginning of last month:
    • Site-wide: 89,295

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

genetics more details view paper
  • Downloaded 1,821 times
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    • Site-wide: 8,615
    • In genetics: 403
  • Year to date:
    • Site-wide: 30,177
  • Since beginning of last month:
    • Site-wide: 25,771

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

genetics more details view paper
  • Downloaded 1,660 times
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    • Site-wide: 9,876
    • In genetics: 469
  • Year to date:
    • Site-wide: 64,920
  • Since beginning of last month:
    • Site-wide: 46,031

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 1,655 times
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    • Site-wide: 9,934
    • In genetics: 475
  • Year to date:
    • Site-wide: 70,148
  • Since beginning of last month:
    • Site-wide: 56,204

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

genomics more details view paper
  • Downloaded 1,577 times
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    • Site-wide: 10,652
    • In genomics: 1,158
  • Year to date:
    • Site-wide: 35,054
  • Since beginning of last month:
    • Site-wide: 49,143

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,458 times
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    • Site-wide: 11,925
    • In genomics: 1,296
  • Year to date:
    • Site-wide: 74,651
  • Since beginning of last month:
    • Site-wide: 75,484

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

genetics more details view paper
  • Downloaded 1,413 times
  • Download rankings, all-time:
    • Site-wide: 12,529
    • In genetics: 616
  • Year to date:
    • Site-wide: 87,649
  • Since beginning of last month:
    • Site-wide: 66,731

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

bioinformatics more details view paper
  • Downloaded 1,404 times
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    • Site-wide: 12,643
    • In bioinformatics: 1,532
  • Year to date:
    • Site-wide: 87,992
  • Since beginning of last month:
    • Site-wide: 71,459

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 1,243 times
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    • Site-wide: 15,245
    • In genomics: 1,580
  • Year to date:
    • Site-wide: 88,545
  • Since beginning of last month:
    • Site-wide: 117,480

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 1,203 times
  • Download rankings, all-time:
    • Site-wide: 16,003
    • In genetics: 792
  • Year to date:
    • Site-wide: 77,298
  • Since beginning of last month:
    • Site-wide: 75,057

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 1,176 times
  • Download rankings, all-time:
    • Site-wide: 16,542
    • In genomics: 1,710
  • Year to date:
    • Site-wide: 55,835
  • Since beginning of last month:
    • Site-wide: 74,105

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

genetics more details view paper
  • Downloaded 1,174 times
  • Download rankings, all-time:
    • Site-wide: 16,585
    • In genetics: 807
  • Year to date:
    • Site-wide: 86,862
  • Since beginning of last month:
    • Site-wide: 72,744

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

genetics more details view paper
  • Downloaded 1,138 times
  • Download rankings, all-time:
    • Site-wide: 17,352
    • In genetics: 849
  • Year to date:
    • Site-wide: 74,527
  • Since beginning of last month:
    • Site-wide: 65,644

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 1,083 times
  • Download rankings, all-time:
    • Site-wide: 18,690
    • In genetic and genomic medicine: 64
  • Year to date:
    • Site-wide: 7,845
  • Since beginning of last month:
    • Site-wide: 9,504

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

genetics more details view paper
  • Downloaded 1,071 times
  • Download rankings, all-time:
    • Site-wide: 19,015
    • In genetics: 922
  • Year to date:
    • Site-wide: 40,000
  • Since beginning of last month:
    • Site-wide: 58,641

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

genetics more details view paper
  • Downloaded 1,030 times
  • Download rankings, all-time:
    • Site-wide: 20,110
    • In genetics: 967
  • Year to date:
    • Site-wide: 70,123
  • Since beginning of last month:
    • Site-wide: 56,498

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

genomics more details view paper
  • Downloaded 1,003 times
  • Download rankings, all-time:
    • Site-wide: 20,891
    • In genomics: 2,077
  • Year to date:
    • Site-wide: 102,107
  • Since beginning of last month:
    • Site-wide: 128,268

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

cancer biology more details view paper
  • Downloaded 878 times
  • Download rankings, all-time:
    • Site-wide: 25,320
    • In cancer biology: 639
  • Year to date:
    • Site-wide: 46,761
  • Since beginning of last month:
    • Site-wide: 46,811

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 877 times
  • Download rankings, all-time:
    • Site-wide: 25,365
    • In genetics: 1,226
  • Year to date:
    • Site-wide: 19,450
  • Since beginning of last month:
    • Site-wide: 11,141

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

genetics more details view paper
  • Downloaded 816 times
  • Download rankings, all-time:
    • Site-wide: 28,080
    • In genetics: 1,362
  • Year to date:
    • Site-wide: 88,436
  • Since beginning of last month:
    • Site-wide: 79,275

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

genetic and genomic medicine more details view paper
  • Downloaded 811 times
  • Download rankings, all-time:
    • Site-wide: 28,275
    • In genetic and genomic medicine: 89
  • Year to date:
    • Site-wide: 27,102
  • Since beginning of last month:
    • Site-wide: 22,716

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 794 times
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    • Site-wide: 29,108
    • In genetics: 1,412
  • Year to date:
    • Site-wide: 14,171
  • Since beginning of last month:
    • Site-wide: 10,831

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

bioinformatics more details view paper
  • Downloaded 725 times
  • Download rankings, all-time:
    • Site-wide: 33,116
    • In bioinformatics: 3,714
  • Year to date:
    • Site-wide: 134,451
  • Since beginning of last month:
    • Site-wide: None

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 709 times
  • Download rankings, all-time:
    • Site-wide: 34,038
    • In genomics: 2,982
  • Year to date:
    • Site-wide: 125,827
  • Since beginning of last month:
    • Site-wide: 115,837

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 694 times
  • Download rankings, all-time:
    • Site-wide: 35,116
    • In genetics: 1,687
  • Year to date:
    • Site-wide: 64,779
  • Since beginning of last month:
    • Site-wide: 56,937

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

genomics more details view paper
  • Downloaded 630 times
  • Download rankings, all-time:
    • Site-wide: 39,807
    • In genomics: 3,324
  • Year to date:
    • Site-wide: 94,747
  • Since beginning of last month:
    • Site-wide: 89,179

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 617 times
  • Download rankings, all-time:
    • Site-wide: 40,924
    • In genetics: 1,943
  • Year to date:
    • Site-wide: 5,053
  • Since beginning of last month:
    • Site-wide: 15,927

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

genetic and genomic medicine more details view paper
  • Downloaded 535 times
  • Download rankings, all-time:
    • Site-wide: 48,717
    • In genetic and genomic medicine: 150
  • Year to date:
    • Site-wide: 2,672
  • Since beginning of last month:
    • Site-wide: 775

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

endocrinology more details view paper
  • Downloaded 523 times
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    • Site-wide: 50,050
    • In endocrinology: 27
  • Year to date:
    • Site-wide: 58,483
  • Since beginning of last month:
    • Site-wide: 69,909

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

genetics more details view paper
  • Downloaded 510 times
  • Download rankings, all-time:
    • Site-wide: 51,600
    • In genetics: 2,405
  • Year to date:
    • Site-wide: 121,921
  • Since beginning of last month:
    • Site-wide: 113,730

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

genetics more details view paper
  • Downloaded 434 times
  • Download rankings, all-time:
    • Site-wide: 61,434
    • In genetics: 2,855
  • Year to date:
    • Site-wide: 13,651
  • Since beginning of last month:
    • Site-wide: 47,907

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 419 times
  • Download rankings, all-time:
    • Site-wide: 63,787
    • In genetic and genomic medicine: 203
  • Year to date:
    • Site-wide: 70,753
  • Since beginning of last month:
    • Site-wide: 49,652

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 400 times
  • Download rankings, all-time:
    • Site-wide: 66,880
    • In genetics: 3,078
  • Year to date:
    • Site-wide: 98,227
  • Since beginning of last month:
    • Site-wide: 104,673

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 357 times
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    • Site-wide: 74,113
    • In epidemiology: 3,109
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    • Site-wide: 39,469
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    • Site-wide: 33,067

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 339 times
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    • Site-wide: 77,397
    • In epidemiology: 3,225
  • Year to date:
    • Site-wide: 97,962
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    • Site-wide: 89,731

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 320 times
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    • Site-wide: 81,180
    • In genetic and genomic medicine: 285
  • Year to date:
    • Site-wide: 23,874
  • Since beginning of last month:
    • Site-wide: 21,266

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

genomics more details view paper
  • Downloaded 260 times
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    • Site-wide: 93,918
    • In genomics: 5,777
  • Year to date:
    • Site-wide: 64,865
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    • Site-wide: 60,693

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 254 times
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    • Site-wide: 95,280
    • In endocrinology: 65
  • Year to date:
    • Site-wide: 33,121
  • Since beginning of last month:
    • Site-wide: 30,075

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 152 times
  • Download rankings, all-time:
    • Site-wide: 117,449
    • In genetics: 5,040
  • Year to date:
    • Site-wide: 122,124
  • Since beginning of last month:
    • Site-wide: 115,950

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