Author: Jennifer A. Brody

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Preprints

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

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  • Site-wide: 1,202
  • In genomics: 97
• Year to date:
  • Site-wide: 3,936
• Since beginning of last month:
  • Site-wide: 57,857

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

• Downloaded 2,836 times
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  • Site-wide: 5,340
  • In genetics: 222
• Year to date:
  • Site-wide: 4,788
• Since beginning of last month:
  • Site-wide: 38,960

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 8,334
  • In genetic and genomic medicine: 35
• Year to date:
  • Site-wide: 33,820
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  • Site-wide: 68,919

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

• Downloaded 1,896 times
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  • Site-wide: 9,641
  • In genetics: 418
• Year to date:
  • Site-wide: 92,091
• Since beginning of last month:
  • Site-wide: 31,941

Genetic insights into the biological mechanisms governing human ovarian ageing

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  • Site-wide: 10,237
  • In sexual and reproductive health: 10
• Year to date:
  • Site-wide: 1,515
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  • Site-wide: 256

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

• Downloaded 1,690 times
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  • Site-wide: 11,382
  • In genetics: 505
• Year to date:
  • Site-wide: 92,641
• Since beginning of last month:
  • Site-wide: 79,989

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

• Downloaded 1,478 times
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  • Site-wide: 13,875
  • In genetic and genomic medicine: 62
• Year to date:
  • Site-wide: 6,261
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  • Site-wide: 9,564

Population sequencing data reveal a compendium of mutational processes in human germline

• Downloaded 1,430 times
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  • Site-wide: 14,628
  • In genetics: 668
• Year to date:
  • Site-wide: 23,491
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  • Site-wide: 51,204

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

• Downloaded 1,256 times
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  • Site-wide: 17,750
  • In genetics: 821
• Year to date:
  • Site-wide: 65,188
• Since beginning of last month:
  • Site-wide: 23,349

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 1,138 times
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  • Site-wide: 20,578
  • In genetics: 943
• Year to date:
  • Site-wide: 9,021
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  • Site-wide: 5,996

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 993 times
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  • Site-wide: 25,110
  • In genetics: 1,140
• Year to date:
  • Site-wide: 25,488
• Since beginning of last month:
  • Site-wide: 119,416

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

• Downloaded 896 times
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  • Site-wide: 29,094
  • In genomics: 2,582
• Year to date:
  • Site-wide: 53,525
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  • Site-wide: 13,584

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 861 times
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  • Site-wide: 30,806
  • In genetics: 1,416
• Year to date:
  • Site-wide: 86,936
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  • Site-wide: 87,471

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

• Downloaded 858 times
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  • Site-wide: 30,945
  • In genetics: 1,420
• Year to date:
  • Site-wide: 125,838
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  • Site-wide: 114,215

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

• Downloaded 848 times
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  • Site-wide: 31,462
  • In genetics: 1,447
• Year to date:
  • Site-wide: 7,466
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  • Site-wide: 4,479

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

• Downloaded 698 times
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  • Site-wide: 41,182
  • In hematology: 34
• Year to date:
  • Site-wide: 8,778
• Since beginning of last month:
  • Site-wide: 44,061

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

• Downloaded 651 times
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  • Site-wide: 45,078
  • In genetics: 2,017
• Year to date:
  • Site-wide: 93,603
• Since beginning of last month:
  • Site-wide: 35,854

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

• Downloaded 631 times
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  • Site-wide: 46,921
  • In genetics: 2,093
• Year to date:
  • Site-wide: 125,881
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  • Site-wide: 64,907

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

• Downloaded 615 times
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  • Site-wide: 48,478
  • In genetics: 2,164
• Year to date:
  • Site-wide: 93,851
• Since beginning of last month:
  • Site-wide: 51,815

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

• Downloaded 601 times
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  • Site-wide: 49,892
  • In genomics: 3,841
• Year to date:
  • Site-wide: 53,493
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  • Site-wide: 101,245

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

• Downloaded 591 times
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  • Site-wide: 50,915
  • In genetics: 2,252
• Year to date:
  • Site-wide: 124,062
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  • Site-wide: 87,324

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

• Downloaded 586 times
• Download rankings, all-time:
  • Site-wide: 51,468
  • In genetics: 2,273
• Year to date:
  • Site-wide: 7,303
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  • Site-wide: 76,682

Meta-analysis of exome array data identifies six novel genetic loci for lung function

• Downloaded 483 times
• Download rankings, all-time:
  • Site-wide: 64,639
  • In genetics: 2,851
• Year to date:
  • Site-wide: 150,090
• Since beginning of last month:
  • Site-wide: None

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 460 times
• Download rankings, all-time:
  • Site-wide: 68,186
  • In genetic and genomic medicine: 281
• Year to date:
  • Site-wide: 24,951
• Since beginning of last month:
  • Site-wide: 42,238

Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

• Downloaded 412 times
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  • Site-wide: 76,338
  • In genetics: 3,328
• Year to date:
  • Site-wide: 107,097
• Since beginning of last month:
  • Site-wide: 104,140

Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes

• Downloaded 370 times
• Download rankings, all-time:
  • Site-wide: 84,188
  • In genetic and genomic medicine: 367
• Year to date:
  • Site-wide: 14,265
• Since beginning of last month:
  • Site-wide: 2,000

Epigenome-wide association analysis of daytime sleepiness in the Multi-Ethnic Study of Atherosclerosis reveals African-American specific associations

• Downloaded 343 times
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  • Site-wide: 89,941
  • In genomics: 5,678
• Year to date:
  • Site-wide: 133,822
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  • Site-wide: None

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

• Downloaded 310 times
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  • Site-wide: 97,205
  • In genetics: 4,168
• Year to date:
  • Site-wide: 113,833
• Since beginning of last month:
  • Site-wide: 23,879

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

• Downloaded 290 times
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  • Site-wide: 101,910
  • In genetic and genomic medicine: 488
• Year to date:
  • Site-wide: 20,205
• Since beginning of last month:
  • Site-wide: 52,507

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

• Downloaded 275 times
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  • Site-wide: 105,487
  • In genetics: 4,475
• Year to date:
  • Site-wide: 151,606
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  • Site-wide: None

Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies

• Downloaded 245 times
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  • Site-wide: 112,744
  • In genetics: 4,737
• Year to date:
  • Site-wide: 99,014
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  • Site-wide: 34,413

The effect of sex and underlying disease on the genetic association of QT interval and sudden cardiac death

• Downloaded 186 times
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  • Site-wide: 127,419
  • In genetics: 5,228
• Year to date:
  • Site-wide: 149,489
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  • Site-wide: None

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

• Downloaded 57 times
• Download rankings, all-time:
  • Site-wide: 151,562
  • In genetic and genomic medicine: 907
• Year to date:
  • Site-wide: 105,651
• Since beginning of last month:
  • Site-wide: 7,030