Author: Mark Mccarthy

Downloads per author, site-wide

Preprints

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

• Downloaded 22,207 times
• Download rankings, all-time:
  • Site-wide: 403
  • In genomics: 13
• Year to date:
  • Site-wide: 34,572
• Since beginning of last month:
  • Site-wide: 106,282

Detection of human adaptation during the past 2,000 years

• Downloaded 16,842 times
• Download rankings, all-time:
  • 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

• Downloaded 3,304 times
• Download rankings, all-time:
  • Site-wide: 4,769
  • In genomics: 470
• Year to date:
  • Site-wide: 114,889
• Since beginning of last month:
  • Site-wide: 160,058

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

• Downloaded 2,761 times
• Download rankings, all-time:
  • Site-wide: 6,177
  • In genetics: 251
• Year to date:
  • Site-wide: 32,852
• Since beginning of last month:
  • Site-wide: 67,388

Improving reporting standards for polygenic scores in risk prediction studies

• Downloaded 2,688 times
• Download rankings, all-time:
  • Site-wide: 6,431
  • In genetic and genomic medicine: 29
• Year to date:
  • Site-wide: 4,251
• Since beginning of last month:
  • Site-wide: 11,017

An Effector Index to Predict Causal Genes at GWAS Loci

• Downloaded 2,508 times
• Download rankings, all-time:
  • Site-wide: 7,145
  • In bioinformatics: 754
• Year to date:
  • Site-wide: 7,641
• Since beginning of last month:
  • Site-wide: 8,684

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

• Downloaded 1,966 times
• Download rankings, all-time:
  • Site-wide: 10,219
  • In genetics: 421
• Year to date:
  • Site-wide: 47,915
• Since beginning of last month:
  • Site-wide: 54,310

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

• Downloaded 1,907 times
• Download rankings, all-time:
  • Site-wide: 10,693
  • In genetics: 453
• Year to date:
  • Site-wide: 130,725
• Since beginning of last month:
  • Site-wide: 156,019

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

• Downloaded 1,784 times
• Download rankings, all-time:
  • Site-wide: 11,831
  • In genetic and genomic medicine: 54
• Year to date:
  • Site-wide: 5,732
• Since beginning of last month:
  • Site-wide: 5,175

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

• Downloaded 1,773 times
• Download rankings, all-time:
  • Site-wide: 11,925
  • In genetics: 509
• Year to date:
  • Site-wide: 78,897
• Since beginning of last month:
  • Site-wide: 131,797

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

• Downloaded 1,735 times
• Download rankings, all-time:
  • Site-wide: 12,305
  • In genetics: 525
• Year to date:
  • Site-wide: 102,719
• Since beginning of last month:
  • Site-wide: 121,744

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

• Downloaded 1,718 times
• Download rankings, all-time:
  • Site-wide: 12,490
  • In genomics: 1,248
• Year to date:
  • Site-wide: 52,618
• Since beginning of last month:
  • Site-wide: 63,663

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

• Downloaded 1,589 times
• Download rankings, all-time:
  • Site-wide: 14,008
  • In genetic and genomic medicine: 68
• Year to date:
  • Site-wide: 2,713
• Since beginning of last month:
  • Site-wide: 3,053

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,509 times
• Download rankings, all-time:
  • Site-wide: 15,268
  • In genomics: 1,494
• Year to date:
  • Site-wide: 129,015
• Since beginning of last month:
  • Site-wide: 139,943

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

• Downloaded 1,480 times
• Download rankings, all-time:
  • Site-wide: 15,748
  • In bioinformatics: 1,776
• Year to date:
  • Site-wide: 113,107
• Since beginning of last month:
  • Site-wide: 108,782

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

• Downloaded 1,466 times
• Download rankings, all-time:
  • Site-wide: 15,983
  • In genetics: 704
• Year to date:
  • Site-wide: 133,023
• Since beginning of last month:
  • Site-wide: 157,491

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

• Downloaded 1,322 times
• Download rankings, all-time:
  • Site-wide: 18,689
  • In genomics: 1,757
• Year to date:
  • Site-wide: 110,983
• Since beginning of last month:
  • Site-wide: 112,955

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

• Downloaded 1,277 times
• Download rankings, all-time:
  • Site-wide: 19,682
  • In genetics: 879
• Year to date:
  • Site-wide: 5,313
• Since beginning of last month:
  • 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.

• Downloaded 1,270 times
• Download rankings, all-time:
  • Site-wide: 19,826
  • In genomics: 1,854
• Year to date:
  • Site-wide: 85,643
• Since beginning of last month:
  • Site-wide: 124,925

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

• Downloaded 1,269 times
• Download rankings, all-time:
  • 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

• Downloaded 1,259 times
• Download rankings, all-time:
  • Site-wide: 20,103
  • In genetics: 894
• Year to date:
  • Site-wide: 126,168
• Since beginning of last month:
  • Site-wide: 135,532

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

• Downloaded 1,205 times
• Download rankings, all-time:
  • Site-wide: 21,491
  • In genetics: 942
• Year to date:
  • Site-wide: 114,513
• Since beginning of last month:
  • Site-wide: 133,050

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

• Downloaded 1,202 times
• Download rankings, all-time:
  • Site-wide: 21,587
  • In genetics: 946
• Year to date:
  • Site-wide: 58,670
• Since beginning of last month:
  • Site-wide: 84,556

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 1,188 times
• Download rankings, all-time:
  • Site-wide: 21,961
  • In genetics: 959
• Year to date:
  • Site-wide: 13,374
• Since beginning of last month:
  • Site-wide: 94,305

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

• Downloaded 1,122 times
• Download rankings, all-time:
  • Site-wide: 23,963
  • In genetics: 1,049
• Year to date:
  • Site-wide: 94,127
• Since beginning of last month:
  • Site-wide: 70,820

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 1,079 times
• Download rankings, all-time:
  • Site-wide: 25,433
  • In genetics: 1,118
• Year to date:
  • Site-wide: 29,853
• Since beginning of last month:
  • Site-wide: 61,025

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

• Downloaded 1,048 times
• Download rankings, all-time:
  • Site-wide: 26,596
  • In genomics: 2,384
• Year to date:
  • Site-wide: 144,730
• Since beginning of last month:
  • Site-wide: 125,498

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

• Downloaded 985 times
• Download rankings, all-time:
  • Site-wide: 29,130
  • In cancer biology: 745
• Year to date:
  • Site-wide: 72,837
• Since beginning of last month:
  • Site-wide: 123,848

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

• Downloaded 972 times
• Download rankings, all-time:
  • Site-wide: 29,677
  • In genetic and genomic medicine: 138
• Year to date:
  • Site-wide: 42,130
• Since beginning of last month:
  • Site-wide: 100,957

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

• Downloaded 886 times
• Download rankings, all-time:
  • Site-wide: 34,013
  • In genetics: 1,491
• Year to date:
  • Site-wide: 118,551
• Since beginning of last month:
  • Site-wide: 86,604

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

• Downloaded 866 times
• Download rankings, all-time:
  • Site-wide: 35,137
  • In genetics: 1,539
• Year to date:
  • Site-wide: 54,452
• Since beginning of last month:
  • Site-wide: 77,924

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

• Downloaded 826 times
• Download rankings, all-time:
  • Site-wide: 37,709
  • In bioinformatics: 4,040
• Year to date:
  • Site-wide: 108,985
• Since beginning of last month:
  • Site-wide: 57,844

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

• Downloaded 751 times
• Download rankings, all-time:
  • Site-wide: 43,202
  • In genomics: 3,417
• Year to date:
  • Site-wide: 152,529
• Since beginning of last month:
  • Site-wide: 161,627

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

• Downloaded 699 times
• Download rankings, all-time:
  • Site-wide: 47,753
  • In genomics: 3,668
• Year to date:
  • Site-wide: 121,351
• Since beginning of last month:
  • Site-wide: 97,618

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

• Downloaded 643 times
• Download rankings, all-time:
  • Site-wide: 53,506
  • In endocrinology: 37
• Year to date:
  • Site-wide: 73,010
• Since beginning of last month:
  • Site-wide: 88,928

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

• Downloaded 597 times
• Download rankings, all-time:
  • Site-wide: 58,886
  • In genetic and genomic medicine: 279
• Year to date:
  • Site-wide: 23,775
• Since beginning of last month:
  • Site-wide: 20,471

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

• Downloaded 580 times
• Download rankings, all-time:
  • Site-wide: 61,089
  • In genetics: 2,603
• Year to date:
  • Site-wide: 128,869
• Since beginning of last month:
  • Site-wide: 66,770

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

• Downloaded 565 times
• Download rankings, all-time:
  • Site-wide: 63,165
  • In genetic and genomic medicine: 296
• Year to date:
  • Site-wide: 13,122
• Since beginning of last month:
  • Site-wide: 12,882

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

• Downloaded 545 times
• Download rankings, all-time:
  • Site-wide: 65,949
  • In genetics: 2,807
• Year to date:
  • Site-wide: 37,479
• Since beginning of last month:
  • Site-wide: 126,034

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

• Downloaded 524 times
• Download rankings, all-time:
  • Site-wide: 69,053
  • In genetic and genomic medicine: 337
• Year to date:
  • Site-wide: 85,924
• Since beginning of last month:
  • 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

• Downloaded 475 times
• Download rankings, all-time:
  • Site-wide: 77,396
  • In epidemiology: 3,399
• Year to date:
  • Site-wide: 63,332
• Since beginning of last month:
  • Site-wide: 131,131

Aetiological differences between novel subtypes of diabetes derived from genetic associations

• Downloaded 474 times
• Download rankings, all-time:
  • Site-wide: 77,421
  • In endocrinology: 63
• Year to date:
  • Site-wide: 34,015
• Since beginning of last month:
  • Site-wide: 32,819

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

• Downloaded 452 times
• Download rankings, all-time:
  • Site-wide: 81,601
  • In genetics: 3,442
• Year to date:
  • Site-wide: 137,618
• Since beginning of last month:
  • Site-wide: 135,126

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

• Downloaded 408 times
• Download rankings, all-time:
  • Site-wide: 90,402
  • In genomics: 5,702
• Year to date:
  • Site-wide: 62,908
• Since beginning of last month:
  • 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

• Downloaded 383 times
• Download rankings, all-time:
  • Site-wide: 95,963
  • In epidemiology: 4,099
• Year to date:
  • Site-wide: 144,608
• Since beginning of last month:
  • Site-wide: 146,479

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

• Downloaded 286 times
• Download rankings, all-time:
  • Site-wide: 119,998
  • In genetic and genomic medicine: 685
• Year to date:
  • Site-wide: 36,388
• Since beginning of last month:
  • Site-wide: 34,456

Identification of rare loss of function variation regulating body fat distribution

• Downloaded 281 times
• Download rankings, all-time:
  • Site-wide: 121,287
  • In genetic and genomic medicine: 697
• Year to date:
  • Site-wide: 37,335
• Since beginning of last month:
  • Site-wide: 19,225

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

• Downloaded 224 times
• Download rankings, all-time:
  • Site-wide: 136,113
  • In genetics: 5,425
• Year to date:
  • Site-wide: 127,179
• Since beginning of last month:
  • Site-wide: 113,719

Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study

• Downloaded 129 times
• Download rankings, all-time:
  • Site-wide: 156,146
  • In epidemiology: 6,449
• Year to date:
  • Site-wide: 91,956
• Since beginning of last month:
  • Site-wide: 132,848