Author: Mark I McCarthy

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Preprints

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

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  • Site-wide: 307
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Detection of human adaptation during the past 2,000 years

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  • Site-wide: 410
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  • Site-wide: 24,654
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  • 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

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  • Site-wide: 3,700
  • In genomics: 417
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Genome-wide association study identifies 48 common genetic variants associated with handedness

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  • Site-wide: 5,167
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  • Site-wide: 22,449
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  • Site-wide: 26,966

Improving reporting standards for polygenic scores in risk prediction studies

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  • Site-wide: 6,900
  • In genetic and genomic medicine: 23
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  • Site-wide: 2,370
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  • Site-wide: 1,793

An Effector Index to Predict Causal Genes at GWAS Loci

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  • Site-wide: 7,471
  • In bioinformatics: 896
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  • Site-wide: 6,690
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  • Site-wide: 12,004

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

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  • Site-wide: 8,394
  • In genetics: 393
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  • Site-wide: 88,409
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Identification of type 2 diabetes loci in 433,540 East Asian individuals

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  • Site-wide: 8,615
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• Year to date:
  • Site-wide: 30,177
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  • Site-wide: 25,771

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

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  • Site-wide: 64,920
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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

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  • Site-wide: 9,934
  • In genetics: 475
• Year to date:
  • Site-wide: 70,148
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  • Site-wide: 56,204

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

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  • Site-wide: 10,652
  • In genomics: 1,158
• Year to date:
  • Site-wide: 35,054
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  • Site-wide: 49,143

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,925
  • In genomics: 1,296
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  • Site-wide: 74,651
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  • Site-wide: 75,484

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

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  • Site-wide: 12,529
  • In genetics: 616
• Year to date:
  • Site-wide: 87,649
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  • Site-wide: 66,731

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

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  • Site-wide: 12,643
  • In bioinformatics: 1,532
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  • Site-wide: 87,992
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  • 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

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  • Site-wide: 15,245
  • In genomics: 1,580
• Year to date:
  • Site-wide: 88,545
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  • 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

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  • Site-wide: 16,003
  • In genetics: 792
• Year to date:
  • Site-wide: 77,298
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  • 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.

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  • Site-wide: 16,542
  • In genomics: 1,710
• Year to date:
  • Site-wide: 55,835
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  • Site-wide: 74,105

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

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  • Site-wide: 16,585
  • In genetics: 807
• Year to date:
  • Site-wide: 86,862
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  • Site-wide: 72,744

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

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  • Site-wide: 17,352
  • In genetics: 849
• Year to date:
  • Site-wide: 74,527
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  • Site-wide: 65,644

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

• Downloaded 1,083 times
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  • Site-wide: 18,690
  • In genetic and genomic medicine: 64
• Year to date:
  • Site-wide: 7,845
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  • Site-wide: 9,504

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

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  • Site-wide: 19,015
  • In genetics: 922
• Year to date:
  • Site-wide: 40,000
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  • Site-wide: 58,641

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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  • Site-wide: 20,110
  • In genetics: 967
• Year to date:
  • Site-wide: 70,123
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  • Site-wide: 56,498

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

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  • Site-wide: 20,891
  • In genomics: 2,077
• Year to date:
  • Site-wide: 102,107
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  • Site-wide: 128,268

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

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  • Site-wide: 25,320
  • In cancer biology: 639
• Year to date:
  • Site-wide: 46,761
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  • Site-wide: 46,811

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 25,365
  • In genetics: 1,226
• Year to date:
  • Site-wide: 19,450
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  • Site-wide: 11,141

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

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  • Site-wide: 28,080
  • In genetics: 1,362
• Year to date:
  • Site-wide: 88,436
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  • Site-wide: 79,275

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

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  • Site-wide: 28,275
  • In genetic and genomic medicine: 89
• Year to date:
  • Site-wide: 27,102
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  • Site-wide: 22,716

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 29,108
  • In genetics: 1,412
• Year to date:
  • Site-wide: 14,171
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  • Site-wide: 10,831

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

• Downloaded 725 times
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  • Site-wide: 33,116
  • In bioinformatics: 3,714
• Year to date:
  • Site-wide: 134,451
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  • Site-wide: None

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

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  • Site-wide: 34,038
  • In genomics: 2,982
• Year to date:
  • Site-wide: 125,827
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  • 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

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  • Site-wide: 35,116
  • In genetics: 1,687
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  • Site-wide: 64,779
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  • Site-wide: 56,937

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

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  • Site-wide: 39,807
  • In genomics: 3,324
• Year to date:
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  • Site-wide: 89,179

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

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  • Site-wide: 40,924
  • In genetics: 1,943
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  • Site-wide: 5,053
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  • Site-wide: 15,927

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

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  • Site-wide: 48,717
  • In genetic and genomic medicine: 150
• Year to date:
  • Site-wide: 2,672
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  • Site-wide: 775

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

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  • Site-wide: 50,050
  • In endocrinology: 27
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  • Site-wide: 58,483
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  • Site-wide: 69,909

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

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  • Site-wide: 51,600
  • In genetics: 2,405
• Year to date:
  • Site-wide: 121,921
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  • Site-wide: 113,730

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

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  • Site-wide: 61,434
  • In genetics: 2,855
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  • Site-wide: 13,651
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  • Site-wide: 47,907

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

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  • Site-wide: 63,787
  • In genetic and genomic medicine: 203
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  • Site-wide: 70,753
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  • 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

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  • Site-wide: 66,880
  • In genetics: 3,078
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  • Site-wide: 98,227
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  • 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

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  • Site-wide: 74,113
  • In epidemiology: 3,109
• Year to date:
  • 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

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  • Site-wide: 77,397
  • In epidemiology: 3,225
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  • 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

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  • Site-wide: 81,180
  • In genetic and genomic medicine: 285
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  • Site-wide: 23,874
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  • Site-wide: 21,266

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

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  • Site-wide: 60,693

Aetiological differences between novel subtypes of diabetes derived from genetic associations

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  • Site-wide: 95,280
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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

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