Author: Charles Kooperberg

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Preprints

Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

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Recovery of trait heritability from whole genome sequence data

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,260
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The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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Improving reporting standards for polygenic scores in risk prediction studies

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Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

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  • Site-wide: 12,030
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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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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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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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  • Site-wide: 31,883
  • In genomics: 2,829
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  • Site-wide: 73,959
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  • Site-wide: 88,720

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

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  • Site-wide: 33,904
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Integration of rare large-effect expression variants improves polygenic risk prediction

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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

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

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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Genetic insights into the biological mechanisms governing human ovarian ageing

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Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

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  • Site-wide: 44,589
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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  • Site-wide: 50,808
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Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

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Threshold trait architecture of Hsp90-buffered variation

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Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

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  • Site-wide: 67,485
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Multi-ethnic genome-wide association study of decomposed cardioelectric phenotypes illustrates strategies to identify and characterize evidence of shared genetic effects for complex traits

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  • Site-wide: 72,510
  • In epidemiology: 3,042
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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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  • Site-wide: 78,207
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

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  • In epidemiology: 3,516
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  • Site-wide: 84,184

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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  • Site-wide: 87,331
  • In genetics: 3,941
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GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

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  • Site-wide: 94,459
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Genetic architectures of proximal and distal colorectal cancer are partly distinct

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  • Site-wide: 98,173
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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  • Site-wide: 104,969
  • In genomics: 6,124
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  • Site-wide: 69,386

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

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