Author: Steven A. Lubitz

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Preprints

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

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  • Site-wide: 2,193
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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  • Site-wide: 4,361
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  • Site-wide: 7,793
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  • Site-wide: 10,076

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

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  • Site-wide: 5,768
  • In genetics: 269
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Deep learning enables genetic analysis of the human thoracic aorta

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  • Site-wide: 11,673
  • In genomics: 1,275
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  • Site-wide: 5,158

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

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  • In genetics: 568
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  • Site-wide: 77,870

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

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  • Site-wide: 27,489
  • In genomics: 2,548
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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 27,574
  • In genetics: 1,335
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Prevalence and clinical importance of titin truncating variants in adults without known congestive heart failure

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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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  • In genomics: 2,824
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  • Site-wide: 71,386
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  • Site-wide: 85,686

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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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: 40,892
  • In genetics: 1,943
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  • Site-wide: 5,002
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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  • In genetics: 1,953
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  • Site-wide: 71,094

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

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  • In genetics: 2,121
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  • Site-wide: 93,053
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  • Site-wide: 79,064

Genetic Analysis of Right Heart Structure and Function in 40,000 People

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

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  • Site-wide: 80,797
  • In bioinformatics: 7,397
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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: 81,123
  • In genetic and genomic medicine: 285
• Year to date:
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  • Site-wide: 20,822

Massachusetts General Hospital Covid-19 Registry reveals two distinct populations of hospitalized patients by race and ethnicity

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  • Site-wide: 104,520
  • In infectious diseases: 3,892
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Deep Learning to Estimate Cardiac Magnetic Resonance-Derived Left Ventricular Mass

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  • Site-wide: 111,475
  • In cardiovascular medicine: 245
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  • Site-wide: 26,423
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