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: 1,049
  • In genomics: 95
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  • Site-wide: 2,365
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  • Site-wide: 5,829

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 5,734
  • In genetics: 267
• Year to date:
  • Site-wide: 5,219
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  • Site-wide: 5,608

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,441
  • In genetic and genomic medicine: 25
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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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  • Site-wide: 12,025
  • In genetics: 585
• Year to date:
  • Site-wide: 7,571
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  • Site-wide: 6,490

Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs

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  • Site-wide: 28,318
  • In genomics: 2,608
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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: 37,193
  • In genomics: 3,164
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  • Site-wide: 108,611

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: 50,173
  • In epidemiology: 2,249
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  • Site-wide: 121,370

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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  • Site-wide: 50,959
  • In hematology: 33
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  • Site-wide: 5,592
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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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  • Site-wide: 53,617
  • In genetic and genomic medicine: 177
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Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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  • In epidemiology: 3,580
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  • Site-wide: 59,777

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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  • Site-wide: 87,458
  • In genetics: 3,944
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  • Site-wide: 51,222
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  • Site-wide: None

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • In genetics: 4,142
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  • Site-wide: 123,207
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Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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  • Site-wide: 108,179
  • In genetic and genomic medicine: 470
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  • Site-wide: 11,868
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  • Site-wide: 3,736

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: 113,636
  • In genetic and genomic medicine: 518
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Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

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  • Site-wide: 116,082
  • In genetics: 4,997
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