Author: Alanna C. Morrison

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Preprints

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

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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 3,959
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  • Site-wide: 53,394
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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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  • Site-wide: 9,930
  • In genetics: 477
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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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  • Site-wide: 11,704
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Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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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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Large-scale multivariate multi-ancestry Interaction analyses point towards different genetic mechanisms by population and exposure

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

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  • In genetic and genomic medicine: 89
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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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ACAT: A Fast and Powerful P-value Combination Method for Rare-variant Analysis in Sequencing Studies

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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: 36,873
  • In genomics: 3,143
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  • Site-wide: 74,204
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  • Site-wide: 102,525

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

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  • Site-wide: 40,748
  • In genetics: 1,939
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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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  • In genetics: 1,974
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  • Site-wide: 107,591
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  • Site-wide: 86,756

GEM: Scalable and flexible gene-environment interaction analysis in millions of samples

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  • In bioinformatics: 5,121
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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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  • In genomics: 4,026
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Meta-analysis of exome array data identifies six novel genetic loci for lung function

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  • Site-wide: 55,657
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  • Site-wide: 118,286
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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: 56,816
  • In hematology: 34
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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: 67,122
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Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole Genome Sequencing Studies

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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: 80,897
  • In genetic and genomic medicine: 286
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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: 3,487
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

• Downloaded 292 times
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  • Site-wide: 86,607
  • In genetics: 3,923
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Efficient gene-environment interaction tests for large biobank-scale sequencing studies

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  • Site-wide: 88,876
  • In genetics: 4,011
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  • Site-wide: 68,184
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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: 107,382

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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  • Site-wide: 104,679
  • In genomics: 6,124
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  • Site-wide: 97,460
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  • Site-wide: 72,016

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

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  • Site-wide: 109,541
  • In genetics: 4,787
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Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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  • Site-wide: 110,420
  • In genetic and genomic medicine: 483
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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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  • Site-wide: 112,998
  • In genetic and genomic medicine: 511
• Year to date:
  • Site-wide: 12,824
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  • Site-wide: 38,571

Lifestyle Risk Score for aggregating multiple lifestyle factors: Handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

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  • Site-wide: 125,409
  • In genetics: 5,282
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