Author: Charles Kooperberg

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Preprints

Genetic insights into the biological mechanisms governing human ovarian ageing

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Recovery of trait heritability from whole genome sequence data

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  • Site-wide: 594
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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  • Site-wide: 964
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  • Site-wide: 1,618
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  • Site-wide: 1,627

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 1,932
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  • Site-wide: 51,790
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The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

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  • Site-wide: 3,396
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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  • Site-wide: 4,167
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Improving reporting standards for polygenic scores in risk prediction studies

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  • Site-wide: 9,455
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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: 13,931
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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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  • Site-wide: 22,895
  • In genetic and genomic medicine: 61
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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: 28,848
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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: 30,432
  • In genetics: 1,547
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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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  • Site-wide: 33,049
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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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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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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Integration of rare large-effect expression variants improves polygenic risk prediction

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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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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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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: 67,313
  • In epidemiology: 2,743
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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  • Site-wide: 79,347
  • In bioinformatics: 7,259
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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

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  • Site-wide: 79,814
  • In epidemiology: 3,214
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GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

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  • Site-wide: 84,744
  • In genetics: 3,939
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  • Site-wide: 94,743

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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  • Site-wide: 88,038
  • In hematology: 50
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  • Site-wide: 2,171
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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  • Site-wide: 90,749
  • In genetics: 4,218
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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: 91,529
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  • Site-wide: 6,569

Genetic architectures of proximal and distal colorectal cancer are partly distinct

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  • Site-wide: 31,213
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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  • Site-wide: 99,548
  • In genomics: 5,912
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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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  • Site-wide: 117,720
  • In genetic and genomic medicine: 511
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  • Site-wide: 1,373
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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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  • Site-wide: 122,235
  • In genetic and genomic medicine: 538
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