Author: Andrew D. Johnson

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Preprints

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

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  • Site-wide: 986
  • In genomics: 92
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  • Site-wide: 1,305
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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 3,732
  • In genetics: 166
• Year to date:
  • Site-wide: 36,244
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  • Site-wide: 36,244

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 5,952
  • In genetics: 286
• Year to date:
  • Site-wide: 5,498
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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,206
  • In genetic and genomic medicine: 20
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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

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  • In genetics: 441
• Year to date:
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Genome-wide Association Study Of Plasma Proteins Identifies Putatively Causal Genes, Proteins, And Pathways For Cardiovascular Disease

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  • Site-wide: 13,913
  • In epidemiology: 902
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  • Site-wide: 36,390
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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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  • Site-wide: 25,631
  • In genetics: 1,272
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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

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De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

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  • In genetics: 1,662
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  • Site-wide: 73,236
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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: 35,116
  • In genomics: 3,073
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Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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  • In genomics: 3,868
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  • Site-wide: 33,140
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  • Site-wide: 33,140

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

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  • Site-wide: 66,379
  • In hematology: 40
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  • Site-wide: 4,425
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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: 66,944
  • In genetics: 3,131
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  • Site-wide: 63,656
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Integrative Genomic Analysis and Functional Studies Reveal GP5, GRN, MPO and MCAM as Causal Protein Biomarkers for Platelet Traits

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  • Site-wide: 75,452
  • In genomics: 5,087
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  • Site-wide: 69,240
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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: 83,143
  • In genetics: 3,830
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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • Site-wide: 88,490
  • In genetics: 4,051
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  • Site-wide: 117,040
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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: 112,090
  • In genetic and genomic medicine: 486
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