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Author: Patrick T. Ellinor

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  • All-time downloads: 29,205 (rank: 1,649 out of 423,760)
  • Categories:
    • bioinformatics: 177 (rank: 31,012 (tie) out of 34,272)
    • genetics: 15,819 (rank: 719 out of 36,792)
    • genomics: 13,209 (rank: 989 out of 42,763)

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Preprints

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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Transcriptional and Cellular Diversity of the Human Heart

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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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Population sequencing data reveal a compendium of mutational processes in human germline

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Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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Deep learning enables genetic analysis of the human thoracic aorta

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Analysis of cardiac magnetic resonance imaging traits in 29,000 individuals reveals shared genetic basis with dilated cardiomyopathy

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Detailed Regulatory Interaction Map of the Human Heart Facilitates Gene Discovery for Cardiovascular Disease

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

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GWAS-driven Pathway Analyses and Functional Validation Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse

genetics more details view paper
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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

genetics more details view paper
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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

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