Author: Mark I McCarthy

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Preprints

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

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Detection of human adaptation during the past 2,000 years

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

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

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

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An Effector Index to Predict Causal Genes at GWAS Loci

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

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

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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

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Improving reporting standards for polygenic scores in risk prediction studies

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

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

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

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

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Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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

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Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

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

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

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

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

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

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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

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

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

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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

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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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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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Divergent genetic effects for type 1 and type 2 diabetes at overlapping association signals

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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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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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