Author: Nathan Pankratz

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Preprints

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

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  • Site-wide: 991
  • In genomics: 98
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 6,133
  • In genetics: 309
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  • Site-wide: 11,977

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • In genetic and genomic medicine: 17
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Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

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  • In genetics: 739
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  • Site-wide: 26,332
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Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs

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  • Site-wide: 26,771
  • In genomics: 2,542
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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

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  • Site-wide: 33,685
  • In genomics: 2,986
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Association between Mitochondrial DNA Copy Number and Sudden Cardiac Death: Findings from the Atherosclerosis Risk in Communities Study (ARIC)

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  • Site-wide: 45,591
  • In epidemiology: 2,023
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Elucidating mechanisms of genetic cross-disease associations: an integrative approach implicates protein C as a causal pathway in arterial and venous diseases

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  • In genetic and genomic medicine: 145
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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  • Site-wide: 84,749
  • In genetics: 3,939
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  • Site-wide: 14,820
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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • In genetics: 3,945
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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  • Site-wide: 89,333
  • In hematology: 50
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  • Site-wide: 2,468

Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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  • In epidemiology: 3,605
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Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

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  • In genetics: 4,791
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  • Site-wide: 70,793
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  • Site-wide: 119,907

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

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  • Site-wide: 123,208
  • In genetic and genomic medicine: 543
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