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: 278
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  • Site-wide: 30,709
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  • Site-wide: 31,932

Detection of human adaptation during the past 2,000 years

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  • Site-wide: 374
  • In genetics: 10
• Year to date:
  • Site-wide: 66,346
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  • Site-wide: 30,404

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: 3,325
  • In genomics: 392
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  • Site-wide: 64,444
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  • Site-wide: 93,113

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

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  • Site-wide: 4,820
  • In genetics: 233
• Year to date:
  • Site-wide: 18,574
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  • Site-wide: 15,714

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

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  • Site-wide: 7,461
  • In genetics: 370
• Year to date:
  • Site-wide: 27,085
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  • Site-wide: 101,435

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

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  • Site-wide: 7,995
  • In genetics: 401
• Year to date:
  • Site-wide: 19,873
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  • Site-wide: 31,757

An Effector Index to Predict Causal Genes at GWAS Loci

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  • Site-wide: 8,130
  • In bioinformatics: 1,019
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  • Site-wide: 16,382
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  • Site-wide: 9,321

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

• Downloaded 1,629 times
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  • Site-wide: 9,008
  • In genetics: 458
• Year to date:
  • Site-wide: 59,075
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  • Site-wide: 70,183

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

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  • Site-wide: 9,030
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  • Site-wide: 81,743
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  • Site-wide: 38,033

Improving reporting standards for polygenic scores in risk prediction studies

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  • Site-wide: 9,218
  • In genetic and genomic medicine: 27
• Year to date:
  • Site-wide: 3,885
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  • Site-wide: 5,351

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

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  • Site-wide: 9,966
  • In genomics: 1,130
• Year to date:
  • Site-wide: 22,081
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  • Site-wide: 58,222

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 10,903
  • In genomics: 1,231
• Year to date:
  • Site-wide: 78,983
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  • Site-wide: 102,201

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

• Downloaded 1,392 times
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  • Site-wide: 11,382
  • In genetics: 582
• Year to date:
  • Site-wide: 85,846
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  • Site-wide: 61,479

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

• Downloaded 1,384 times
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  • Site-wide: 11,475
  • In bioinformatics: 1,445
• Year to date:
  • Site-wide: 85,212
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  • Site-wide: 92,514

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: 13,813
  • In genomics: 1,495
• Year to date:
  • Site-wide: 67,635
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  • Site-wide: 97,798

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: 14,636
  • In genetics: 762
• Year to date:
  • Site-wide: 100,525
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  • Site-wide: 79,522

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

• Downloaded 1,152 times
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  • Site-wide: 15,095
  • In genomics: 1,628
• Year to date:
  • Site-wide: 20,593
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  • Site-wide: 26,982

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

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  • Site-wide: 15,092
  • In genetics: 780
• Year to date:
  • Site-wide: 87,096
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  • Site-wide: 72,823

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

• Downloaded 1,112 times
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  • Site-wide: 15,954
  • In genetics: 823
• Year to date:
  • Site-wide: 71,841
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  • Site-wide: 69,447

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

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  • Site-wide: 18,297
  • In genetics: 929
• Year to date:
  • Site-wide: 43,688
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  • Site-wide: 38,837

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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  • Site-wide: 18,571
  • In genetics: 940
• Year to date:
  • Site-wide: 48,271
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  • Site-wide: 44,830

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

• Downloaded 990 times
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  • Site-wide: 19,022
  • In genomics: 1,976
• Year to date:
  • Site-wide: 64,691
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  • Site-wide: 104,338

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

• Downloaded 914 times
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  • Site-wide: 21,326
  • In genetic and genomic medicine: 61
• Year to date:
  • Site-wide: 3,630
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  • Site-wide: 5,830

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

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  • Site-wide: 24,557
  • In cancer biology: 617
• Year to date:
  • Site-wide: 73,524
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  • Site-wide: 39,951

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

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  • Site-wide: 25,697
  • In genetics: 1,291
• Year to date:
  • Site-wide: 47,371
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  • Site-wide: 95,659

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 764 times
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  • Site-wide: 27,421
  • In genetics: 1,385
• Year to date:
  • Site-wide: 28,732
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  • Site-wide: 24,384

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

• Downloaded 743 times
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  • Site-wide: 28,555
  • In genetic and genomic medicine: 76
• Year to date:
  • Site-wide: 14,908
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  • Site-wide: 17,018

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

• Downloaded 723 times
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  • Site-wide: 29,654
  • In bioinformatics: 3,429
• Year to date:
  • Site-wide: 96,828
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  • Site-wide: 114,287

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: 30,928
  • In genomics: 2,797
• Year to date:
  • Site-wide: 108,204
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  • Site-wide: 82,287

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 33,163
  • In genetics: 1,653
• Year to date:
  • Site-wide: 11,148
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  • Site-wide: 11,284

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

• Downloaded 664 times
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  • Site-wide: 33,232
  • In genetics: 1,659
• Year to date:
  • Site-wide: 54,081
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  • Site-wide: 40,536

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

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  • Site-wide: 36,662
  • In genomics: 3,159
• Year to date:
  • Site-wide: 58,707
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  • Site-wide: 92,231

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

• Downloaded 502 times
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  • Site-wide: 47,189
  • In genetics: 2,280
• Year to date:
  • Site-wide: 85,576
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  • Site-wide: 113,455

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

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  • Site-wide: 47,474
  • In endocrinology: 22
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  • Site-wide: 23,631
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  • Site-wide: 41,078

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

• Downloaded 485 times
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  • Site-wide: 49,024
  • In genetics: 2,376
• Year to date:
  • Site-wide: 1,081
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  • Site-wide: 1,392

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

• Downloaded 391 times
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  • Site-wide: 61,596
  • In genetic and genomic medicine: 172
• Year to date:
  • Site-wide: 73,055
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  • Site-wide: 36,441

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 386 times
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  • Site-wide: 62,446
  • In genetics: 2,978
• Year to date:
  • Site-wide: 60,231
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  • Site-wide: 49,741

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

• Downloaded 340 times
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  • Site-wide: 69,961
  • In genetics: 3,306
• Year to date:
  • Site-wide: 4,382
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  • Site-wide: 16,767

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: 73,587
  • In epidemiology: 3,002
• Year to date:
  • Site-wide: 111,560
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  • Site-wide: 117,752

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 301 times
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  • Site-wide: 77,070
  • In epidemiology: 3,125
• Year to date:
  • Site-wide: 40,207
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  • Site-wide: 21,038

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: 89,916
  • In genetic and genomic medicine: 297
• Year to date:
  • Site-wide: 16,090
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  • Site-wide: 8,988

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

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  • Site-wide: 92,482
  • In genomics: 5,688
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  • Site-wide: 78,694
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  • Site-wide: 105,525

Aetiological differences between novel subtypes of diabetes derived from genetic associations

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  • Site-wide: 98,349
  • In endocrinology: 67
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  • Site-wide: 16,812
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  • Site-wide: 27,338

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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  • Site-wide: 109,401
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  • Site-wide: 61,374