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Author: L. Adrienne Cupples

Rankings

  • All-time downloads: 41,379 (rank: 4,155 (tie) )
  • Categories:
    • bioinformatics: 1,432 (rank: 11,259 (tie) )
    • epidemiology: 324 (rank: 22,180 (tie) )
    • genetic and genomic medicine: 1,227 (rank: 2,912 )
    • genetics: 21,678 (rank: 452 )
    • genomics: 16,718 (rank: 922 )

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Preprints

Multi-omics insights into the biological mechanisms underlying gene-by-lifestyle interactions with smoking and alcohol consumption detected by genome-wide trans-ancestry meta-analysis

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Recovery of trait heritability from whole genome sequence data

genetics more details view paper
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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  • Downloaded 8,443 times
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    • Site-wide: 1,160
    • In genomics: 96
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
  • Downloaded 3,091 times
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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  • Downloaded 2,108 times
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
  • Downloaded 1,724 times
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Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
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Personalized genetic assessment of age associated Alzheimers disease risk

genetics more details view paper
  • Downloaded 998 times
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    • In genetics: 1,117
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A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies

genetics more details view paper
  • Downloaded 931 times
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    • In genetics: 1,237
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Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project

genetics more details view paper
  • Downloaded 883 times
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    • Site-wide: 28,864
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Large-scale multivariate multi-ancestry Interaction analyses point towards different genetic mechanisms by population and exposure

genetics more details view paper
  • Downloaded 873 times
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    • Site-wide: 29,317
    • In genetics: 1,354
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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

genetics more details view paper
  • Downloaded 858 times
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    • Site-wide: 30,040
    • In genetics: 1,391
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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

genomics more details view paper
  • Downloaded 783 times
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    • Site-wide: 34,101
    • In genomics: 2,918
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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

genetics more details view paper
  • Downloaded 764 times
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    • Site-wide: 35,290
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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

genomics more details view paper
  • Downloaded 682 times
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    • Site-wide: 41,182
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    • Site-wide: 107,767
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Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

genomics more details view paper
  • Downloaded 600 times
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    • Site-wide: 48,390
    • In genomics: 3,770
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    • Site-wide: 46,892
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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

genomics more details view paper
  • Downloaded 518 times
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    • Site-wide: 58,078
    • In genomics: 4,306
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    • Site-wide: 138,589
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    • Site-wide: 108,434

Methylome-Wide Association Study Of Central Adiposity Implicates Genes Involved In Immune And Endocrine Systems

genomics more details view paper
  • Downloaded 493 times
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    • Site-wide: 61,364
    • In genomics: 4,456
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    • Site-wide: 52,490
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

genetics more details view paper
  • Downloaded 487 times
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    • Site-wide: 62,127
    • In genetics: 2,771
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    • Site-wide: 21,782
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

genetics more details view paper
  • Downloaded 482 times
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    • Site-wide: 62,821
    • In genetics: 2,798
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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

genetic and genomic medicine more details view paper
  • Downloaded 433 times
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    • Site-wide: 70,398
    • In genetic and genomic medicine: 286
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    • Site-wide: 28,281

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

genetics more details view paper
  • Downloaded 411 times
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    • Site-wide: 74,115
    • In genetics: 3,262
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    • Site-wide: 96,785
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    • Site-wide: 126,950

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

bioinformatics more details view paper
  • Downloaded 364 times
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    • Site-wide: 82,893
    • In bioinformatics: 7,510
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    • Site-wide: 67,104
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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

epidemiology more details view paper
  • Downloaded 324 times
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    • Site-wide: 91,135
    • In epidemiology: 3,804
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Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

genetic and genomic medicine more details view paper
  • Downloaded 312 times
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    • Site-wide: 93,915
    • In genetic and genomic medicine: 416
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    • Site-wide: 15,880
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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

genetic and genomic medicine more details view paper
  • Downloaded 266 times
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    • Site-wide: 104,566
    • In genetic and genomic medicine: 491
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Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies

genetics more details view paper
  • Downloaded 230 times
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    • Site-wide: 113,140
    • In genetics: 4,792
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    • Site-wide: 104,976
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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

genetic and genomic medicine more details view paper
  • Downloaded 216 times
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Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

genetics more details view paper
  • Downloaded 173 times
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Lifestyle Risk Score for aggregating multiple lifestyle factors: Handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

genetics more details view paper
  • Downloaded 127 times
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    • Site-wide: 137,162
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