Author: Seung Hoan Choi

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Preprints

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

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  • Site-wide: 1,445
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  • Site-wide: 12,854
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  • Site-wide: 21,420

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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  • Site-wide: 3,144
  • In genetics: 128
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  • Site-wide: 198
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  • Site-wide: 695

Transcriptional and Cellular Diversity of the Human Heart

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  • Site-wide: 3,227
  • In genomics: 280
• Year to date:
  • Site-wide: 37,357
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  • Site-wide: 50,225

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

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  • Site-wide: 5,981
  • In genetics: 213
• Year to date:
  • Site-wide: 24,444
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  • Site-wide: 36,684

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

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  • Site-wide: 6,537
  • In genetics: 253
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  • Site-wide: 12,331
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Deep learning enables genetic analysis of the human thoracic aorta

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  • Site-wide: 9,691
  • In genomics: 938
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  • Site-wide: 21,096
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  • Site-wide: 37,162

Comparative Huntington And Parkinson Disease mRNA Analysis Reveals Common Inflammatory Processes

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  • Site-wide: 23,521
  • In genomics: 1,963
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  • Site-wide: 126,666
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  • Site-wide: 172,885

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

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  • Site-wide: 34,876
  • In cardiovascular medicine: 59
• Year to date:
  • Site-wide: 90,332
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  • Site-wide: 137,750

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project

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  • Site-wide: 35,719
  • In genetics: 1,400
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  • Site-wide: 184,374
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  • Site-wide: 182,587

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 38,832
  • In genetics: 1,539
• Year to date:
  • Site-wide: 135,996
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  • Site-wide: 117,796

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: 42,757
  • In genomics: 3,180
• Year to date:
  • Site-wide: 160,812
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  • Site-wide: 172,276

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

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  • Site-wide: 48,616
  • In genomics: 3,665
• Year to date:
  • Site-wide: 32,284
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  • Site-wide: 63,557

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: 54,253
  • In genomics: 3,773
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  • Site-wide: 164,078
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  • Site-wide: 186,320

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: 56,929
  • In genetic and genomic medicine: 299
• Year to date:
  • Site-wide: 55,642
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  • Site-wide: 45,837

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

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  • Site-wide: 58,661
  • In genetics: 2,233
• Year to date:
  • Site-wide: 160,902
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  • Site-wide: 184,875

Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots

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  • Site-wide: 64,133
  • In endocrinology: 52
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  • Site-wide: 32,646
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  • Site-wide: 68,801

The Genetic Determinants of Aortic Distension

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  • Site-wide: 89,762
  • In cardiovascular medicine: 201
• Year to date:
  • Site-wide: 42,274
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  • Site-wide: 54,046

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

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  • Site-wide: 94,232
  • In genetic and genomic medicine: 656
• Year to date:
  • Site-wide: 21,875
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  • Site-wide: 24,672

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

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  • Site-wide: 105,268
  • In cardiovascular medicine: 257
• Year to date:
  • Site-wide: 42,563
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  • Site-wide: 43,392

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

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  • Site-wide: 110,426
  • In genetic and genomic medicine: 712
• Year to date:
  • Site-wide: 50,344
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  • Site-wide: 50,487

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

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  • Site-wide: 117,818
  • In cardiovascular medicine: 432
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  • Site-wide: 8,030
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Machine Learning to Understand Genetic and Clinical Factors Associated with the Pulse Waveform Dicrotic Notch

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  • Site-wide: 125,009
  • In cardiovascular medicine: 401
• Year to date:
  • Site-wide: 19,381
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  • Site-wide: 18,218

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

• Downloaded 332 times
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  • Site-wide: 129,467
  • In cardiovascular medicine: 516
• Year to date:
  • Site-wide: 9,574
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  • Site-wide: 34,651

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

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  • Site-wide: 133,209
  • In genetic and genomic medicine: 805
• Year to date:
  • Site-wide: 100,292
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  • Site-wide: 95,660

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

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  • Site-wide: 142,176
  • In cardiovascular medicine: 478
• Year to date:
  • Site-wide: 49,302
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  • Site-wide: 48,944