Author: Steven Lubitz

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Preprints

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

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  • Site-wide: 1,441
  • In genomics: 92
• Year to date:
  • Site-wide: 12,334
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  • Site-wide: 16,883

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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  • Site-wide: 5,439
  • In genomics: 498
• Year to date:
  • Site-wide: 30,212
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  • Site-wide: 44,132

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

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  • Site-wide: 5,989
  • In genetics: 213
• Year to date:
  • Site-wide: 25,634
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  • Site-wide: 49,721

Deep learning enables genetic analysis of the human thoracic aorta

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  • Site-wide: 9,651
  • In genomics: 938
• Year to date:
  • Site-wide: 20,100
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  • Site-wide: 31,983

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

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  • Site-wide: 16,473
  • In genetics: 648
• Year to date:
  • Site-wide: 114,559
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  • Site-wide: 185,024

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: 18,031
  • In genetics: 781
• Year to date:
  • Site-wide: 27,584
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  • Site-wide: 21,983

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

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  • Site-wide: 21,483
  • In genetics: 1,061
• Year to date:
  • Site-wide: 10,831
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  • Site-wide: 5,500

Prevalence and clinical importance of titin truncating variants in adults without known congestive heart failure

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  • Site-wide: 34,729
  • In cardiovascular medicine: 59
• Year to date:
  • Site-wide: 89,133
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  • Site-wide: 136,017

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

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  • Site-wide: 35,152
  • In genomics: 2,775
• Year to date:
  • Site-wide: 119,530
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  • Site-wide: 149,887

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 38,762
  • In genetics: 1,539
• Year to date:
  • Site-wide: 135,502
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  • Site-wide: 116,384

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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  • Site-wide: 42,543
  • In genomics: 3,180
• Year to date:
  • Site-wide: 160,440
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  • Site-wide: 173,478

Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses

• Downloaded 788 times
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  • Site-wide: 48,291
  • In genomics: 3,665
• Year to date:
  • Site-wide: 30,597
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  • Site-wide: 58,865

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

• Downloaded 729 times
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  • Site-wide: 53,983
  • In genomics: 3,773
• Year to date:
  • Site-wide: 162,880
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  • Site-wide: 184,875

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

• Downloaded 696 times
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  • Site-wide: 57,548
  • In genetic and genomic medicine: 299
• Year to date:
  • Site-wide: 58,386
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  • Site-wide: 59,166

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

• Downloaded 690 times
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  • Site-wide: 58,356
  • In genetics: 2,233
• Year to date:
  • Site-wide: 160,646
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  • Site-wide: 182,804

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

• Downloaded 678 times
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  • Site-wide: 59,895
  • In genetics: 2,336
• Year to date:
  • Site-wide: 148,826
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  • Site-wide: 93,427

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

• Downloaded 588 times
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  • Site-wide: 71,917
  • In genetics: 3,422
• Year to date:
  • Site-wide: 23,826
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  • Site-wide: 21,528

Cohort Design and Natural Language Processing to Reduce Bias in Electronic Health Records Research: The Community Care Cohort Project

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  • Site-wide: 92,550
  • In epidemiology: 4,378
• Year to date:
  • Site-wide: 37,182
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  • Site-wide: 53,059

Genetics of Myocardial Interstitial Fibrosis in the Human Heart and Association with Disease

• Downloaded 470 times
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  • Site-wide: 93,889
  • In genetic and genomic medicine: 656
• Year to date:
  • Site-wide: 20,839
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  • Site-wide: 19,658

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

• Downloaded 454 times
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  • Site-wide: 97,328
  • In bioinformatics: 8,202
• Year to date:
  • Site-wide: 107,450
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  • Site-wide: 133,802

Screening for Atrial Fibrillation in Older Adults at Primary Care Visits: the VITAL-AF Randomized Controlled Trial

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  • Site-wide: 105,164
  • In cardiovascular medicine: 336
• Year to date:
  • Site-wide: 21,315
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  • Site-wide: 23,988

Using Machine Learning to Elucidate the Spatial and Genetic Complexity of the Ascending Aorta

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  • Site-wide: 108,080
  • In cardiovascular medicine: 257
• Year to date:
  • Site-wide: 46,726
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  • Site-wide: 68,746

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

• Downloaded 402 times
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  • Site-wide: 109,572
  • In genetic and genomic medicine: 712
• Year to date:
  • Site-wide: 47,427
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  • Site-wide: 46,223

Clinical and Genetic Associations of Deep Learning-Derived Cardiac Magnetic Resonance-Based Left Ventricular Mass

• Downloaded 370 times
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  • Site-wide: 117,942
  • In cardiovascular medicine: 432
• Year to date:
  • Site-wide: 7,800
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  • Site-wide: 29,437

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

• Downloaded 351 times
• Download rankings, all-time:
  • Site-wide: 123,237
  • In genetic and genomic medicine: 910
• Year to date:
  • Site-wide: 19,970
• Since beginning of last month:
  • Site-wide: 14,970

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

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  • Site-wide: 128,261
  • In infectious diseases: 5,688
• Year to date:
  • Site-wide: 140,292
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  • Site-wide: 122,991

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-lead Electrocardiograms

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  • Site-wide: 128,748
  • In cardiovascular medicine: 516
• Year to date:
  • Site-wide: 9,188
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  • Site-wide: 29,248

Machine Learning to Understand Genetic and Clinical Factors Associated with the Pulse Waveform Dicrotic Notch

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  • Site-wide: 129,111
  • In cardiovascular medicine: 401
• Year to date:
  • Site-wide: 20,873
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  • Site-wide: 22,281

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

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  • Site-wide: 132,537
  • In genetic and genomic medicine: 805
• Year to date:
  • Site-wide: 97,639
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  • Site-wide: 90,749

Deep Learning to Estimate Cardiac Magnetic Resonance-Derived Left Ventricular Mass

• Downloaded 293 times
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  • Site-wide: 140,231
  • In cardiovascular medicine: 356
• Year to date:
  • Site-wide: 161,140
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  • Site-wide: 169,179

Deep Learning of Left Atrial Structure and Function Provides Link to Atrial Fibrillation Risk

• Downloaded 289 times
• Download rankings, all-time:
  • Site-wide: 141,443
  • In cardiovascular medicine: 478
• Year to date:
  • Site-wide: 46,590
• Since beginning of last month:
  • Site-wide: 44,641

Accelerometer-Derived and Genetically Inferred Physical Activity and Human Disease

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  • Site-wide: 159,921
  • In epidemiology: 6,349
• Year to date:
  • Site-wide: 135,858
• Since beginning of last month:
  • Site-wide: 139,175