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Author: Mark Mccarthy

  • ORCiD: http://orcid.org/0000-0002-4393-0510
  • Most recently observed institution: Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, United Kingdom

Rankings

  • All-time downloads: 93,029 (rank: 1,836 )
  • Categories:
    • bioinformatics: 4,814 (rank: 3,050 )
    • cancer biology: 985 (rank: 11,451 (tie) )
    • endocrinology: 1,117 (rank: 164 )
    • epidemiology: 987 (rank: 12,511 (tie) )
    • genetic and genomic medicine: 9,286 (rank: 120 )
    • genetics: 41,604 (rank: 121 )
    • genomics: 34,236 (rank: 370 )

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: 403
    • In genomics: 13
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    • Site-wide: 106,282

Detection of human adaptation during the past 2,000 years

genetics more details view paper
  • Downloaded 16,842 times
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    • Site-wide: 551
    • In genetics: 11
  • Year to date:
    • Site-wide: 23,421
  • Since beginning of last month:
    • Site-wide: 87,004

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 3,304 times
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    • Site-wide: 4,769
    • In genomics: 470
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    • Site-wide: 114,889
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    • Site-wide: 160,058

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

genetics more details view paper
  • Downloaded 2,761 times
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    • Site-wide: 6,177
    • In genetics: 251
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Improving reporting standards for polygenic scores in risk prediction studies

genetic and genomic medicine more details view paper
  • Downloaded 2,688 times
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    • Site-wide: 6,431
    • In genetic and genomic medicine: 29
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    • Site-wide: 4,251
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    • Site-wide: 11,017

An Effector Index to Predict Causal Genes at GWAS Loci

bioinformatics more details view paper
  • Downloaded 2,508 times
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    • Site-wide: 7,145
    • In bioinformatics: 754
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    • Site-wide: 7,641
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    • Site-wide: 8,684

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

genetics more details view paper
  • Downloaded 1,966 times
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    • Site-wide: 10,219
    • In genetics: 421
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

genetics more details view paper
  • Downloaded 1,907 times
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    • In genetics: 453
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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 1,784 times
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    • Site-wide: 11,831
    • In genetic and genomic medicine: 54
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    • Site-wide: 5,732
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
  • Downloaded 1,773 times
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    • Site-wide: 11,925
    • In genetics: 509
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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 1,735 times
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    • Site-wide: 12,305
    • In genetics: 525
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    • Site-wide: 121,744

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

genomics more details view paper
  • Downloaded 1,718 times
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    • Site-wide: 12,490
    • In genomics: 1,248
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    • Site-wide: 52,618
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    • Site-wide: 63,663

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

genetic and genomic medicine more details view paper
  • Downloaded 1,589 times
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    • Site-wide: 14,008
    • In genetic and genomic medicine: 68
  • Year to date:
    • Site-wide: 2,713
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    • Site-wide: 3,053

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,509 times
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    • Site-wide: 15,268
    • In genomics: 1,494
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    • Site-wide: 129,015
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    • Site-wide: 139,943

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

bioinformatics more details view paper
  • Downloaded 1,480 times
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    • Site-wide: 15,748
    • In bioinformatics: 1,776
  • Year to date:
    • Site-wide: 113,107
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    • Site-wide: 108,782

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

genetics more details view paper
  • Downloaded 1,466 times
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    • Site-wide: 15,983
    • In genetics: 704
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    • Site-wide: 133,023
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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 1,322 times
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    • Site-wide: 18,689
    • In genomics: 1,757
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    • Site-wide: 110,983
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    • Site-wide: 112,955

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 1,277 times
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    • Site-wide: 19,682
    • In genetics: 879
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    • Site-wide: 5,313
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    • Site-wide: 11,818

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 1,270 times
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    • Site-wide: 19,826
    • In genomics: 1,854
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    • Site-wide: 85,643
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    • Site-wide: 124,925

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

genetics more details view paper
  • Downloaded 1,269 times
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    • Site-wide: 19,868
    • In genetics: 886
  • Year to date:
    • Site-wide: 97,399
  • Since beginning of last month:
    • Site-wide: 86,230

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 1,259 times
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    • Site-wide: 20,103
    • In genetics: 894
  • Year to date:
    • Site-wide: 126,168
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    • Site-wide: 135,532

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

genetics more details view paper
  • Downloaded 1,205 times
  • Download rankings, all-time:
    • Site-wide: 21,491
    • In genetics: 942
  • Year to date:
    • Site-wide: 114,513
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    • Site-wide: 133,050

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

genetics more details view paper
  • Downloaded 1,202 times
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    • Site-wide: 21,587
    • In genetics: 946
  • Year to date:
    • Site-wide: 58,670
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    • Site-wide: 84,556

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,188 times
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    • Site-wide: 21,961
    • In genetics: 959
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    • Site-wide: 13,374
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    • Site-wide: 94,305

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

genetics more details view paper
  • Downloaded 1,122 times
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    • Site-wide: 23,963
    • In genetics: 1,049
  • Year to date:
    • Site-wide: 94,127
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    • Site-wide: 70,820

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 1,079 times
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    • Site-wide: 25,433
    • In genetics: 1,118
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    • Site-wide: 29,853
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    • Site-wide: 61,025

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

genomics more details view paper
  • Downloaded 1,048 times
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    • Site-wide: 26,596
    • In genomics: 2,384
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    • Site-wide: 144,730
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    • Site-wide: 125,498

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

cancer biology more details view paper
  • Downloaded 985 times
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    • Site-wide: 29,130
    • In cancer biology: 745
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    • Site-wide: 72,837
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 972 times
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    • Site-wide: 29,677
    • In genetic and genomic medicine: 138
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    • Site-wide: 42,130
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A general framework for predicting the transcriptomic consequences of non-coding variation

genetics more details view paper
  • Downloaded 886 times
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    • Site-wide: 34,013
    • In genetics: 1,491
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    • Site-wide: 118,551
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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 866 times
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    • Site-wide: 35,137
    • In genetics: 1,539
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    • Site-wide: 54,452
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    • Site-wide: 77,924

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

bioinformatics more details view paper
  • Downloaded 826 times
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    • Site-wide: 37,709
    • In bioinformatics: 4,040
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    • Site-wide: 108,985
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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 751 times
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    • Site-wide: 43,202
    • In genomics: 3,417
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    • Site-wide: 152,529
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    • Site-wide: 161,627

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

genomics more details view paper
  • Downloaded 699 times
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    • Site-wide: 47,753
    • In genomics: 3,668
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    • Site-wide: 121,351
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Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

endocrinology more details view paper
  • Downloaded 643 times
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    • Site-wide: 53,506
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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 597 times
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    • Site-wide: 58,886
    • In genetic and genomic medicine: 279
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    • Site-wide: 23,775
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    • Site-wide: 20,471

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

genetics more details view paper
  • Downloaded 580 times
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    • Site-wide: 61,089
    • In genetics: 2,603
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    • Site-wide: 128,869
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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 565 times
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    • Site-wide: 63,165
    • In genetic and genomic medicine: 296
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Analysis of overlapping genetic association in type 1 and type 2 diabetes

genetics more details view paper
  • Downloaded 545 times
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    • Site-wide: 65,949
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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 524 times
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    • Site-wide: 69,053
    • In genetic and genomic medicine: 337
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    • Site-wide: 85,924
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    • Site-wide: 70,944

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 475 times
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    • Site-wide: 77,396
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    • Site-wide: 131,131

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 474 times
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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 452 times
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    • Site-wide: 81,601
    • In genetics: 3,442
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    • Site-wide: 137,618
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    • Site-wide: 135,126

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

genomics more details view paper
  • Downloaded 408 times
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    • Site-wide: 90,402
    • In genomics: 5,702
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    • Site-wide: 62,908
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    • Site-wide: 38,687

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 383 times
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    • Site-wide: 95,963
    • In epidemiology: 4,099
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    • Site-wide: 144,608
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    • Site-wide: 146,479

Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease

genetic and genomic medicine more details view paper
  • Downloaded 286 times
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    • Site-wide: 119,998
    • In genetic and genomic medicine: 685
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    • Site-wide: 36,388
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    • Site-wide: 34,456

Identification of rare loss of function variation regulating body fat distribution

genetic and genomic medicine more details view paper
  • Downloaded 281 times
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    • Site-wide: 121,287
    • In genetic and genomic medicine: 697
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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 224 times
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    • In genetics: 5,425
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Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study

epidemiology more details view paper
  • Downloaded 129 times
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    • Site-wide: 156,146
    • In epidemiology: 6,449
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