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: 2,341
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  • Site-wide: 5,676

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

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  • Site-wide: 5,729
  • In genetics: 267
• Year to date:
  • Site-wide: 5,146
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  • Site-wide: 5,487

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,428
  • In genetic and genomic medicine: 25
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 8,446
  • In genetics: 396
• Year to date:
  • Site-wide: 90,476
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  • Site-wide: 94,685

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

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  • Site-wide: 9,978
  • In genetics: 477
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  • Site-wide: 72,456
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Population sequencing data reveal a compendium of mutational processes in human germline

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  • Site-wide: 14,257
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  • Site-wide: 19,799
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Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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  • Site-wide: 16,162
  • In genetics: 794
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  • Site-wide: 54,536
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  • Site-wide: 74,565

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

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  • Site-wide: 18,761
  • In genetic and genomic medicine: 66
• Year to date:
  • Site-wide: 8,274
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  • Site-wide: 10,855

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 25,469
  • In genetics: 1,228
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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

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  • Site-wide: 27,025
  • In genetics: 1,304
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  • Site-wide: 95,777
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  • Site-wide: 101,091

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 27,575
  • In genetics: 1,337
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  • Site-wide: 61,016
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  • Site-wide: 62,700

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

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  • Site-wide: 28,297
  • In genomics: 2,608
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  • Site-wide: 54,506
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  • Site-wide: 47,640

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 29,245
  • In genetics: 1,418
• Year to date:
  • Site-wide: 14,968
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  • Site-wide: 12,380

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

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  • Site-wide: 41,049
  • In genetics: 1,947
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  • Site-wide: 5,375
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  • Site-wide: 17,873

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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  • Site-wide: 41,382
  • In genetics: 1,956
• Year to date:
  • Site-wide: 92,178
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  • Site-wide: 62,327

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

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  • Site-wide: 41,423
  • In genetics: 1,957
• Year to date:
  • Site-wide: 79,453
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  • Site-wide: 73,210

Genetic insights into the biological mechanisms governing human ovarian ageing

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  • Site-wide: 43,717
  • In sexual and reproductive health: 19
• Year to date:
  • Site-wide: 2,503
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  • Site-wide: 8,396

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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  • Site-wide: 45,133
  • In genetics: 2,120
• Year to date:
  • Site-wide: 95,189
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  • Site-wide: 81,068

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

• Downloaded 570 times
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  • Site-wide: 45,402
  • In genetics: 2,130
• Year to date:
  • Site-wide: 95,173
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  • Site-wide: 83,844

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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  • Site-wide: 47,947
  • In genomics: 3,798
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  • Site-wide: 36,997
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  • Site-wide: 32,080

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

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  • Site-wide: 50,808
  • In hematology: 33
• Year to date:
  • Site-wide: 5,520
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Meta-analysis of exome array data identifies six novel genetic loci for lung function

• Downloaded 476 times
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  • Site-wide: 56,160
  • In genetics: 2,610
• Year to date:
  • Site-wide: 119,870
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  • Site-wide: 133,276

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 398 times
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  • Site-wide: 67,485
  • In genetics: 3,101
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  • Site-wide: 60,642
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  • Site-wide: 67,599

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: 78,207
  • In genetic and genomic medicine: 275
• Year to date:
  • Site-wide: 21,269
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  • Site-wide: 16,985

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

• Downloaded 328 times
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  • Site-wide: 79,848
  • In genomics: 5,251
• Year to date:
  • Site-wide: 103,835
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  • Site-wide: 85,719

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 274 times
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  • Site-wide: 91,214
  • In genetics: 4,107
• Year to date:
  • Site-wide: 119,026
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  • Site-wide: 110,581

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

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  • Site-wide: 92,384
  • In genetics: 4,147
• Year to date:
  • Site-wide: 123,288
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  • Site-wide: 106,428

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

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  • Site-wide: 106,053
  • In genetics: 4,659
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  • Site-wide: 89,839
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  • Site-wide: 65,022

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

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  • Site-wide: 112,370
  • In genetic and genomic medicine: 504
• Year to date:
  • Site-wide: 13,510
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  • Site-wide: 41,034

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

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  • Site-wide: 113,961
  • In genetics: 4,925
• Year to date:
  • Site-wide: 133,407
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  • Site-wide: 134,190