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: 329
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Detection of human adaptation during the past 2,000 years

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  • Site-wide: 445
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  • Site-wide: 20,178
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  • 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

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  • Site-wide: 4,018
  • In genomics: 434
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Genome-wide association study identifies 48 common genetic variants associated with handedness

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  • Site-wide: 5,460
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  • Site-wide: 25,124
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  • Site-wide: 26,484

Improving reporting standards for polygenic scores in risk prediction studies

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  • Site-wide: 6,558
  • In genetic and genomic medicine: 27
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An Effector Index to Predict Causal Genes at GWAS Loci

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  • Site-wide: 7,472
  • In bioinformatics: 865
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 9,051
  • In genetics: 407
• Year to date:
  • Site-wide: 91,357
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Identification of type 2 diabetes loci in 433,540 East Asian individuals

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  • Site-wide: 9,196
  • In genetics: 414
• Year to date:
  • Site-wide: 39,832
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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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: 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

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  • Site-wide: 11,165
  • In genomics: 1,174
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  • Site-wide: 38,833
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  • Site-wide: 70,183

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 12,927
  • In genomics: 1,359
• Year to date:
  • Site-wide: 93,041
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  • Site-wide: 138,140

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

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  • Site-wide: 13,442
  • In genetics: 630
• Year to date:
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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

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  • Site-wide: 13,434
  • In bioinformatics: 1,582
• Year to date:
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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

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  • Site-wide: 15,763
  • In genetic and genomic medicine: 61
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  • 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

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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

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  • Site-wide: 17,183
  • In genetics: 818
• Year to date:
  • Site-wide: 91,170
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  • 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.

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  • Site-wide: 17,545
  • In genomics: 1,758
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  • 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

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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.

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  • Site-wide: 18,699
  • In genetics: 889
• Year to date:
  • Site-wide: 92,902
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  • Site-wide: 99,250

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

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  • Site-wide: 20,161
  • In genetics: 951
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  • Site-wide: 53,247
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  • Site-wide: 54,638

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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  • Site-wide: 21,289
  • In genetics: 998
• Year to date:
  • Site-wide: 78,554
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  • Site-wide: 91,424

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 21,923
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  • Site-wide: 8,296
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  • Site-wide: 4,538

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

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  • Site-wide: 22,509
  • In genomics: 2,172
• Year to date:
  • Site-wide: 113,144
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  • Site-wide: 117,032

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 24,783
  • In genetics: 1,163
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  • 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.

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  • Site-wide: 25,017
  • In genetic and genomic medicine: 93
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  • Site-wide: 2,420
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  • Site-wide: 2,315

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

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  • Site-wide: 26,121
  • In cancer biology: 646
• Year to date:
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  • Site-wide: 40,524

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

• 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

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  • Site-wide: 30,358
  • In genetics: 1,433
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  • 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

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  • Site-wide: 34,313
  • In bioinformatics: 3,798
• Year to date:
  • Site-wide: 111,589
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  • 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

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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

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  • Site-wide: 36,425
  • In genomics: 3,083
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  • 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

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  • Site-wide: 36,847
  • In genetics: 1,720
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  • 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

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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

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  • Site-wide: 50,495
  • In endocrinology: 29
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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

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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

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  • Site-wide: 60,116
  • In genetics: 2,725
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  • 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

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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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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 411 times
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  • Site-wide: 70,576
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• Year to date:
  • 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

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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

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  • Site-wide: 75,325
  • In epidemiology: 3,183
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  • Site-wide: 50,461
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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: 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

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  • Site-wide: 86,366
  • In genetic and genomic medicine: 347
• Year to date:
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  • Site-wide: 6,055

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

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Aetiological differences between novel subtypes of diabetes derived from genetic associations

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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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