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Author: Eric Boerwinkle

  • ORCiD: http://orcid.org/0000-0001-8813-0544
  • Most recently observed institution: The University of Texas Health Science Center at Houston, School of Public Health in Houston, Houston, TX, USA

Rankings

  • All-time downloads: 84,112 (rank: 1,910 )
  • Categories:
    • bioinformatics: 7,526 (rank: 1,470 (tie) )
    • cardiovascular medicine: 283 (rank: 2,202 (tie) )
    • epidemiology: 3,212 (rank: 4,243 (tie) )
    • genetic and genomic medicine: 4,929 (rank: 275 )
    • genetics: 45,388 (rank: 96 )
    • genomics: 17,651 (rank: 812 )
    • hematology: 698 (rank: 487 (tie) )
    • infectious diseases: 250 (rank: 45,133 (tie) )
    • pharmacology and toxicology: 563 (rank: 2,641 (tie) )
    • public and global health: 1,794 (rank: 2,624 )
    • sexual and reproductive health: 1,818 (rank: 116 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 12,829 times
  • Download rankings, all-time:
    • Site-wide: 696
    • In genetics: 15
  • Year to date:
    • Site-wide: 1,534
  • Since beginning of last month:
    • Site-wide: 31,783

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

genomics more details view paper
  • Downloaded 8,465 times
  • Download rankings, all-time:
    • Site-wide: 1,202
    • In genomics: 97
  • Year to date:
    • Site-wide: 3,936
  • Since beginning of last month:
    • Site-wide: 57,857

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

bioinformatics more details view paper
  • Downloaded 3,965 times
  • Download rankings, all-time:
    • Site-wide: 3,328
    • In bioinformatics: 295
  • Year to date:
    • Site-wide: 13,744
  • Since beginning of last month:
    • Site-wide: 102,176

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

genetics more details view paper
  • Downloaded 3,352 times
  • Download rankings, all-time:
    • Site-wide: 4,200
    • In genetics: 154
  • Year to date:
    • Site-wide: 44,104
  • Since beginning of last month:
    • Site-wide: 19,454

The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

genetics more details view paper
  • Downloaded 3,262 times
  • Download rankings, all-time:
    • Site-wide: 4,374
    • In genetics: 167
  • Year to date:
    • Site-wide: 43,193
  • Since beginning of last month:
    • Site-wide: 40,372

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

genetics more details view paper
  • Downloaded 3,216 times
  • Download rankings, all-time:
    • Site-wide: 4,477
    • In genetics: 171
  • Year to date:
    • Site-wide: 37,030
  • Since beginning of last month:
    • Site-wide: 103,740

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
  • Downloaded 3,094 times
  • Download rankings, all-time:
    • Site-wide: 4,719
    • In genomics: 488
  • Year to date:
    • Site-wide: 10,255
  • Since beginning of last month:
    • Site-wide: 88,996

xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experiments

bioinformatics more details view paper
  • Downloaded 2,116 times
  • Download rankings, all-time:
    • Site-wide: 8,186
    • In bioinformatics: 926
  • Year to date:
    • Site-wide: 63,495
  • Since beginning of last month:
    • Site-wide: 108,656

Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

genetics more details view paper
  • Downloaded 1,978 times
  • Download rankings, all-time:
    • Site-wide: 9,066
    • In genetics: 386
  • Year to date:
    • Site-wide: 4,659
  • Since beginning of last month:
    • Site-wide: 1,917

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

genetics more details view paper
  • Downloaded 1,896 times
  • Download rankings, all-time:
    • Site-wide: 9,641
    • In genetics: 418
  • Year to date:
    • Site-wide: 92,091
  • Since beginning of last month:
    • Site-wide: 31,940

Genetic insights into the biological mechanisms governing human ovarian ageing

sexual and reproductive health more details view paper
  • Downloaded 1,818 times
  • Download rankings, all-time:
    • Site-wide: 10,237
    • In sexual and reproductive health: 10
  • Year to date:
    • Site-wide: 1,515
  • Since beginning of last month:
    • Site-wide: 256

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
  • Downloaded 1,750 times
  • Download rankings, all-time:
    • Site-wide: 10,834
    • In genetics: 478
  • Year to date:
    • Site-wide: 54,153
  • Since beginning of last month:
    • Site-wide: 19,806

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

genetics more details view paper
  • Downloaded 1,690 times
  • Download rankings, all-time:
    • Site-wide: 11,382
    • In genetics: 505
  • Year to date:
    • Site-wide: 92,641
  • Since beginning of last month:
    • Site-wide: 79,989

The All of Us Research Program: data quality, utility, and diversity

public and global health more details view paper
  • Downloaded 1,460 times
  • Download rankings, all-time:
    • Site-wide: 14,147
    • In public and global health: 310
  • Year to date:
    • Site-wide: 15,803
  • Since beginning of last month:
    • Site-wide: 77,729

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

genetics more details view paper
  • Downloaded 1,443 times
  • Download rankings, all-time:
    • Site-wide: 14,420
    • In genetics: 657
  • Year to date:
    • Site-wide: 7,515
  • Since beginning of last month:
    • Site-wide: 124,932

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

genetics more details view paper
  • Downloaded 1,430 times
  • Download rankings, all-time:
    • Site-wide: 14,627
    • In genetics: 668
  • Year to date:
    • Site-wide: 23,491
  • Since beginning of last month:
    • Site-wide: 51,204

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

genetic and genomic medicine more details view paper
  • Downloaded 1,351 times
  • Download rankings, all-time:
    • Site-wide: 15,942
    • In genetic and genomic medicine: 69
  • Year to date:
    • Site-wide: 2,231
  • Since beginning of last month:
    • Site-wide: 714

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

genomics more details view paper
  • Downloaded 1,291 times
  • Download rankings, all-time:
    • Site-wide: 17,089
    • In genomics: 1,673
  • Year to date:
    • Site-wide: 89,307
  • Since beginning of last month:
    • Site-wide: 14,997

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,138 times
  • Download rankings, all-time:
    • Site-wide: 20,578
    • In genetics: 943
  • Year to date:
    • Site-wide: 9,021
  • Since beginning of last month:
    • Site-wide: 6,001

Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
  • Downloaded 1,076 times
  • Download rankings, all-time:
    • Site-wide: 22,336
    • In bioinformatics: 2,550
  • Year to date:
    • Site-wide: 56,794
  • Since beginning of last month:
    • Site-wide: 107,803

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 993 times
  • Download rankings, all-time:
    • Site-wide: 25,110
    • In genetics: 1,140
  • Year to date:
    • Site-wide: 25,488
  • Since beginning of last month:
    • Site-wide: 119,413

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 924 times
  • Download rankings, all-time:
    • Site-wide: 27,878
    • In genetic and genomic medicine: 111
  • Year to date:
    • Site-wide: 31,064
  • Since beginning of last month:
    • Site-wide: 43,737

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

genomics more details view paper
  • Downloaded 896 times
  • Download rankings, all-time:
    • Site-wide: 29,094
    • In genomics: 2,582
  • Year to date:
    • Site-wide: 53,525
  • Since beginning of last month:
    • Site-wide: 13,475

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project

genetics more details view paper
  • Downloaded 884 times
  • Download rankings, all-time:
    • Site-wide: 29,669
    • In genetics: 1,352
  • Year to date:
    • Site-wide: 56,101
  • Since beginning of last month:
    • Site-wide: 104,111

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

genetics more details view paper
  • Downloaded 883 times
  • Download rankings, all-time:
    • Site-wide: 29,748
    • In genetics: 1,355
  • Year to date:
    • Site-wide: 29,230
  • Since beginning of last month:
    • Site-wide: 13,581

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 861 times
  • Download rankings, all-time:
    • Site-wide: 30,806
    • In genetics: 1,416
  • Year to date:
    • Site-wide: 86,936
  • Since beginning of last month:
    • Site-wide: 87,471

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

genetics more details view paper
  • Downloaded 858 times
  • Download rankings, all-time:
    • Site-wide: 30,945
    • In genetics: 1,420
  • Year to date:
    • Site-wide: 125,838
  • Since beginning of last month:
    • Site-wide: 114,212

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

genetics more details view paper
  • Downloaded 848 times
  • Download rankings, all-time:
    • Site-wide: 31,461
    • In genetics: 1,447
  • Year to date:
    • Site-wide: 7,471
  • Since beginning of last month:
    • Site-wide: 4,474

Spread of Covid-19 in the United States is controlled

epidemiology more details view paper
  • Downloaded 837 times
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    • Site-wide: 32,022
    • In epidemiology: 1,697
  • Year to date:
    • Site-wide: 67,635
  • Since beginning of last month:
    • Site-wide: None

ACAT: A Fast and Powerful P-value Combination Method for Rare-variant Analysis in Sequencing Studies

genetics more details view paper
  • Downloaded 770 times
  • Download rankings, all-time:
    • Site-wide: 35,979
    • In genetics: 1,633
  • Year to date:
    • Site-wide: 86,529
  • Since beginning of last month:
    • Site-wide: 87,965

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

hematology more details view paper
  • Downloaded 698 times
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    • Site-wide: 41,185
    • In hematology: 34
  • Year to date:
    • Site-wide: 8,773
  • Since beginning of last month:
    • Site-wide: 43,311

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

genomics more details view paper
  • Downloaded 692 times
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    • Site-wide: 41,605
    • In genomics: 3,358
  • Year to date:
    • Site-wide: 107,152
  • Since beginning of last month:
    • Site-wide: 57,718

Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

genomics more details view paper
  • Downloaded 673 times
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    • Site-wide: 43,122
    • In genomics: 3,458
  • Year to date:
    • Site-wide: 72,297
  • Since beginning of last month:
    • Site-wide: 127,035

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

genetics more details view paper
  • Downloaded 651 times
  • Download rankings, all-time:
    • Site-wide: 45,078
    • In genetics: 2,017
  • Year to date:
    • Site-wide: 93,603
  • Since beginning of last month:
    • Site-wide: 35,853

Large Bi-Ethnic Study of Plasma Proteome Leads to Comprehensive Mapping of cis-pQTL and Models for Proteome-wide Association Studies

genetics more details view paper
  • Downloaded 619 times
  • Download rankings, all-time:
    • Site-wide: 48,067
    • In genetics: 2,146
  • Year to date:
    • Site-wide: 6,721
  • Since beginning of last month:
    • Site-wide: 60,754

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

genetics more details view paper
  • Downloaded 615 times
  • Download rankings, all-time:
    • Site-wide: 48,478
    • In genetics: 2,164
  • Year to date:
    • Site-wide: 93,851
  • Since beginning of last month:
    • Site-wide: 51,815

Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
  • Downloaded 600 times
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    • Site-wide: 49,995
    • In genetics: 2,213
  • Year to date:
    • Site-wide: 132,209
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    • Site-wide: None

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

genetics more details view paper
  • Downloaded 586 times
  • Download rankings, all-time:
    • Site-wide: 51,464
    • In genetics: 2,273
  • Year to date:
    • Site-wide: 7,305
  • Since beginning of last month:
    • Site-wide: 77,100

Increased CHIP Prevalence Amongst People Living with HIV

genetic and genomic medicine more details view paper
  • Downloaded 577 times
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    • Site-wide: 52,510
    • In genetic and genomic medicine: 211
  • Year to date:
    • Site-wide: 20,674
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    • Site-wide: 35,396

Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies

pharmacology and toxicology more details view paper
  • Downloaded 563 times
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    • Site-wide: 54,143
    • In pharmacology and toxicology: 317
  • Year to date:
    • Site-wide: 116,012
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    • Site-wide: None

Association between Mitochondrial DNA Copy Number and Sudden Cardiac Death: Findings from the Atherosclerosis Risk in Communities Study (ARIC)

epidemiology more details view paper
  • Downloaded 562 times
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    • Site-wide: 54,260
    • In epidemiology: 2,503
  • Year to date:
    • Site-wide: 112,706
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    • Site-wide: 44,331

Causal Analysis of Health Interventions and Environments for Influencing the Spread of COVID-19 in the United States of America

epidemiology more details view paper
  • Downloaded 559 times
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    • Site-wide: 54,589
    • In epidemiology: 2,513
  • Year to date:
    • Site-wide: 22,580
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    • Site-wide: None

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

genomics more details view paper
  • Downloaded 546 times
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    • Site-wide: 56,155
    • In genomics: 4,202
  • Year to date:
    • Site-wide: 116,355
  • Since beginning of last month:
    • Site-wide: 64,952

Methylome-Wide Association Study Of Central Adiposity Implicates Genes Involved In Immune And Endocrine Systems

genomics more details view paper
  • Downloaded 524 times
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    • Site-wide: 59,032
    • In genomics: 4,342
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    • Site-wide: 47,084
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    • Site-wide: 15,036

Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

genomics more details view paper
  • Downloaded 518 times
  • Download rankings, all-time:
    • Site-wide: 59,883
    • In genomics: 4,377
  • Year to date:
    • Site-wide: 146,771
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    • Site-wide: None

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

genetic and genomic medicine more details view paper
  • Downloaded 472 times
  • Download rankings, all-time:
    • Site-wide: 66,330
    • In genetic and genomic medicine: 271
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    • Site-wide: 40,977
  • Since beginning of last month:
    • Site-wide: 55,608

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

genetic and genomic medicine more details view paper
  • Downloaded 460 times
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    • Site-wide: 68,185
    • In genetic and genomic medicine: 281
  • Year to date:
    • Site-wide: 24,960
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    • Site-wide: 41,991

Serum metabolomics and incidence of atrial fibrillation: the Atherosclerosis Risk in Communities (ARIC) Study

epidemiology more details view paper
  • Downloaded 419 times
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    • Site-wide: 75,060
    • In epidemiology: 3,256
  • Year to date:
    • Site-wide: 84,325
  • Since beginning of last month:
    • Site-wide: 30,280

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

genetics more details view paper
  • 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: 104,137

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole Genome Sequencing Studies

genetics more details view paper
  • Downloaded 383 times
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    • Site-wide: 81,711
    • In genetics: 3,557
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    • Site-wide: 149,989
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    • Site-wide: 110,323

Kidney Function and Blood Pressure: A Bi-directional Mendelian Randomisation Study

genetics more details view paper
  • Downloaded 379 times
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    • Site-wide: 82,412
    • In genetics: 3,589
  • Year to date:
    • Site-wide: 96,493
  • Since beginning of last month:
    • Site-wide: 75,580

De novo mutation in ancestral generations evolves haplotypes contributing to disease

genomics more details view paper
  • Downloaded 376 times
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    • Site-wide: 82,983
    • In genomics: 5,402
  • Year to date:
    • Site-wide: 73,641
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    • Site-wide: 21,841

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

bioinformatics more details view paper
  • Downloaded 369 times
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    • Site-wide: 84,481
    • In bioinformatics: 7,586
  • Year to date:
    • Site-wide: 73,204
  • Since beginning of last month:
    • Site-wide: 125,111

Efficient gene-environment interaction tests for large biobank-scale sequencing studies

genetics more details view paper
  • Downloaded 350 times
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    • Site-wide: 88,322
    • In genetics: 3,829
  • Year to date:
    • Site-wide: 66,690
  • Since beginning of last month:
    • Site-wide: 38,581

Population Vaccine Effectiveness and its Implication for Control of the Spread of COVID-19 in the US

public and global health more details view paper
  • Downloaded 334 times
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    • Site-wide: 91,702
    • In public and global health: 1,181
  • Year to date:
    • Site-wide: 16,602
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    • Site-wide: 41,704

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

epidemiology more details view paper
  • Downloaded 334 times
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    • Site-wide: 91,832
    • In epidemiology: 3,876
  • Year to date:
    • Site-wide: 64,303
  • Since beginning of last month:
    • Site-wide: 120,547

Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

epidemiology more details view paper
  • Downloaded 332 times
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    • Site-wide: 92,294
    • In epidemiology: 3,893
  • Year to date:
    • Site-wide: 101,640
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    • Site-wide: 56,968

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

genetic and genomic medicine more details view paper
  • Downloaded 327 times
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    • Site-wide: 93,322
    • In genetic and genomic medicine: 422
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    • Site-wide: 17,090
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    • Site-wide: 67,796

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

genetics more details view paper
  • Downloaded 310 times
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    • Site-wide: 97,205
    • In genetics: 4,168
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    • Site-wide: 113,833
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    • Site-wide: 23,892

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

genetic and genomic medicine more details view paper
  • Downloaded 290 times
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    • Site-wide: 101,913
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    • Site-wide: 20,255
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    • Site-wide: 53,124

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

genomics more details view paper
  • Downloaded 289 times
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    • Site-wide: 102,059
    • In genomics: 6,123
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    • Site-wide: 68,550
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    • Site-wide: 81,981

Analysis of putative cis-regulatory elements regulating blood pressure variation

genomics more details view paper
  • Downloaded 287 times
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    • Site-wide: 102,464
    • In genomics: 6,134
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    • Site-wide: 51,407

Mitochondrial DNA copy number and incident heart failure: the Atherosclerosis Risk in Communities (ARIC) study

cardiovascular medicine more details view paper
  • Downloaded 283 times
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    • Site-wide: 103,507
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    • Site-wide: 88,855
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    • Site-wide: 71,677

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

genetics more details view paper
  • 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

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

genetic and genomic medicine more details view paper
  • Downloaded 244 times
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    • Site-wide: 112,925
    • In genetic and genomic medicine: 580
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    • Site-wide: 25,463
  • Since beginning of last month:
    • Site-wide: 18,762

Combined Impact of Prior SARS-CoV-2 Infection and Vaccination on Antibody Presence

infectious diseases more details view paper
  • Downloaded 239 times
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    • Site-wide: 114,412
    • In infectious diseases: 4,771
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    • Site-wide: 26,272
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    • Site-wide: 952

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

genetic and genomic medicine more details view paper
  • Downloaded 227 times
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    • Site-wide: 117,436
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    • Site-wide: 28,079
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    • Site-wide: 59,444

Lifestyle Risk Score for aggregating multiple lifestyle factors: Handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

genetics more details view paper
  • Downloaded 127 times
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    • Site-wide: 140,885
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    • Site-wide: 138,882
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    • Site-wide: 125,817

Epidemiology of Atrial Fibrillation in the All of Us Research Program

epidemiology more details view paper
  • Downloaded 86 times
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    • Site-wide: 148,119
    • In epidemiology: 6,121
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