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: 291
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  • Site-wide: 45,529
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  • Site-wide: 45,529

Detection of human adaptation during the past 2,000 years

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  • Site-wide: 398
  • In genetics: 10
• Year to date:
  • Site-wide: 25,271
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  • Site-wide: 25,271

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: 3,486
  • In genomics: 397
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  • Site-wide: 62,662
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  • Site-wide: 62,662

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

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  • Site-wide: 4,908
  • In genetics: 229
• Year to date:
  • Site-wide: 15,425
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  • Site-wide: 15,425

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

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  • Site-wide: 7,927
  • In genetics: 385
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Identification of type 2 diabetes loci in 433,540 East Asian individuals

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  • Site-wide: 8,274
  • In genetics: 403
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  • Site-wide: 27,690
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Improving reporting standards for polygenic scores in risk prediction studies

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  • Site-wide: 8,345
  • In genetic and genomic medicine: 24
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  • Site-wide: 3,148
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An Effector Index to Predict Causal Genes at GWAS Loci

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  • Site-wide: 8,763
  • In bioinformatics: 1,073
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  • Site-wide: None
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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  • Site-wide: 9,403
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  • Site-wide: 72,874
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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: 9,404
  • In genetics: 463
• Year to date:
  • Site-wide: 70,083
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  • Site-wide: 70,083

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

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  • Site-wide: 10,334
  • In genomics: 1,153
• Year to date:
  • Site-wide: 39,124
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  • Site-wide: 39,124

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,244
  • In genomics: 1,252
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  • Site-wide: 54,397
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  • Site-wide: 54,397

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

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  • Site-wide: 11,797
  • In genetics: 593
• Year to date:
  • Site-wide: 82,285
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  • Site-wide: 82,285

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

• Downloaded 1,393 times
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  • Site-wide: 11,898
  • In bioinformatics: 1,473
• Year to date:
  • Site-wide: 78,581
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  • Site-wide: 78,581

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: 14,234
  • In genomics: 1,515
• Year to date:
  • Site-wide: 63,405
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  • Site-wide: 63,405

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: 15,031
  • In genetics: 773
• Year to date:
  • Site-wide: 58,421
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  • Site-wide: 58,421

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: 15,651
  • In genomics: 1,654
• Year to date:
  • Site-wide: 38,301
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  • Site-wide: 38,301

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

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  • Site-wide: 15,670
  • In genetics: 801
• Year to date:
  • Site-wide: 85,564
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  • Site-wide: 85,564

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

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  • Site-wide: 16,498
  • In genetics: 835
• Year to date:
  • Site-wide: 71,193
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  • Site-wide: 71,193

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

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  • Site-wide: 18,199
  • In genetics: 914
• Year to date:
  • Site-wide: 26,314
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  • Site-wide: 26,314

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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  • Site-wide: 19,238
  • In genetics: 960
• Year to date:
  • Site-wide: 66,468
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  • Site-wide: 66,468

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

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  • Site-wide: 19,599
  • In genomics: 2,001
• Year to date:
  • Site-wide: 62,571
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  • Site-wide: 62,571

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

• Downloaded 980 times
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  • Site-wide: 20,126
  • In genetic and genomic medicine: 60
• Year to date:
  • Site-wide: 6,106
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  • Site-wide: 6,106

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

• Downloaded 858 times
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  • Site-wide: 24,411
  • In cancer biology: 611
• Year to date:
  • Site-wide: 32,715
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  • Site-wide: 32,715

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

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  • Site-wide: 26,769
  • In genetics: 1,340
• Year to date:
  • Site-wide: 91,079
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  • Site-wide: 91,079

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 794 times
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  • Site-wide: 27,144
  • In genetics: 1,353
• Year to date:
  • Site-wide: 26,423
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  • Site-wide: 26,423

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

• Downloaded 765 times
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  • Site-wide: 28,588
  • In genetic and genomic medicine: 82
• Year to date:
  • Site-wide: 23,502
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  • Site-wide: 23,502

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: 30,868
  • In bioinformatics: 3,511
• Year to date:
  • Site-wide: 117,872
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  • Site-wide: 117,872

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 31,717
  • In genetics: 1,576
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  • Site-wide: 13,701
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  • Site-wide: 13,701

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

• Downloaded 703 times
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  • Site-wide: 32,127
  • In genomics: 2,877
• Year to date:
  • Site-wide: 117,670
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  • Site-wide: 117,670

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

• Downloaded 679 times
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  • Site-wide: 33,731
  • In genetics: 1,665
• Year to date:
  • Site-wide: 51,742
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  • Site-wide: 51,742

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

• Downloaded 622 times
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  • Site-wide: 37,843
  • In genomics: 3,234
• Year to date:
  • Site-wide: 78,125
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  • Site-wide: 78,125

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

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  • Site-wide: 48,431
  • In endocrinology: 23
• Year to date:
  • Site-wide: 42,258
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  • Site-wide: 42,258

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

• Downloaded 506 times
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  • Site-wide: 48,735
  • In genetics: 2,334
• Year to date:
  • Site-wide: 98,016
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  • Site-wide: 98,016

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: 49,020
  • In genetics: 2,351
• Year to date:
  • Site-wide: 3,418
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  • Site-wide: 3,418

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

• Downloaded 398 times
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  • Site-wide: 63,137
  • In genetic and genomic medicine: 187
• Year to date:
  • Site-wide: 79,802
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  • Site-wide: 79,802

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 392 times
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  • Site-wide: 63,927
  • In genetics: 3,012
• Year to date:
  • Site-wide: 82,365
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  • Site-wide: 82,365

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

• Downloaded 364 times
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  • Site-wide: 68,531
  • In genetics: 3,208
• Year to date:
  • Site-wide: 10,674
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  • Site-wide: 10,674

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: 74,022
  • In epidemiology: 3,060
• Year to date:
  • Site-wide: 78,217
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  • Site-wide: 78,217

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 321 times
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  • Site-wide: 76,160
  • In epidemiology: 3,128
• Year to date:
  • Site-wide: 37,702
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  • Site-wide: 37,702

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: 86,180
  • In genetic and genomic medicine: 288
• Year to date:
  • Site-wide: 19,712
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  • Site-wide: 19,712

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

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  • Site-wide: 94,604
  • In genomics: 5,794
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  • Site-wide: 95,712
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  • Site-wide: 95,712

Aetiological differences between novel subtypes of diabetes derived from genetic associations

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  • Site-wide: 98,454
  • In endocrinology: 64
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  • Site-wide: 29,537
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  • Site-wide: 29,537

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 144 times
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  • Site-wide: 112,823
  • In genetics: 4,945
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  • Site-wide: 115,938