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: 1,042
  • In genomics: 94
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  • Site-wide: 2,193
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  • Site-wide: 4,808

Transcriptional and Cellular Diversity of the Human Heart

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  • Site-wide: 2,311
  • In genomics: 251
• Year to date:
  • Site-wide: 5,505
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  • Site-wide: 5,791

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
• Year to date:
  • Site-wide: 2,682
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  • Site-wide: 6,336

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

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  • Site-wide: 6,127
  • In genetics: 290
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  • Site-wide: 7,670
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  • Site-wide: 10,567

Deep learning enables genetic analysis of the human thoracic aorta

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  • Site-wide: 11,673
  • In genomics: 1,275
• Year to date:
  • Site-wide: 6,082
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  • Site-wide: 5,159

Comparative Huntington And Parkinson Disease mRNA Analysis Reveals Common Inflammatory Processes

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  • Site-wide: 16,827
  • In genomics: 1,742
• Year to date:
  • Site-wide: 75,263
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  • Site-wide: 116,886

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: 27,181
  • In genetics: 1,316
• Year to date:
  • Site-wide: 36,285
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  • Site-wide: 38,022

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 27,574
  • In genetics: 1,335
• Year to date:
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  • Site-wide: 71,245

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

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  • Site-wide: 27,720
  • In cardiovascular medicine: 41
• Year to date:
  • Site-wide: 56,183
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  • Site-wide: 50,941

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: 31,712
  • 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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  • Site-wide: 36,971
  • In genomics: 3,149
• Year to date:
  • Site-wide: 75,090
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  • Site-wide: 107,864

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

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  • Site-wide: 41,204
  • In genetics: 1,953
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  • Site-wide: 77,047
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  • Site-wide: 71,094

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: 81,131
  • In genetic and genomic medicine: 285
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  • Site-wide: 23,642
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  • Site-wide: 20,920