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Author: Eric Boerwinkle

  • ORCiD: http://orcid.org/0000-0001-8813-0544
  • Most recently observed institution: Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA

Rankings

  • All-time downloads: 69,887 (rank: 1,909 )
  • Categories:
    • bioinformatics: 6,925 (rank: 1,370 )
    • cardiovascular medicine: 224 (rank: 1,762 (tie) )
    • epidemiology: 2,596 (rank: 3,838 )
    • genetic and genomic medicine: 2,067 (rank: 592 (tie) )
    • genetics: 39,169 (rank: 111 )
    • genomics: 16,277 (rank: 790 (tie) )
    • hematology: 378 (rank: 477 (tie) )
    • pharmacology and toxicology: 527 (rank: 2,160 (tie) )
    • public and global health: 1,254 (rank: 2,368 (tie) )
    • sexual and reproductive health: 470 (rank: 210 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 11,403 times
  • Download rankings, all-time:
    • Site-wide: 623
    • In genetics: 17
  • Year to date:
    • Site-wide: 1,907
  • Since beginning of last month:
    • Site-wide: 1,423

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

genomics more details view paper
  • Downloaded 8,033 times
  • Download rankings, all-time:
    • Site-wide: 993
    • In genomics: 93
  • Year to date:
    • Site-wide: 1,422
  • Since beginning of last month:
    • Site-wide: 1,398

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

bioinformatics more details view paper
  • Downloaded 3,654 times
  • Download rankings, all-time:
    • Site-wide: 2,920
    • In bioinformatics: 287
  • Year to date:
    • Site-wide: 18,463
  • Since beginning of last month:
    • Site-wide: 32,158

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 3,247 times
  • Download rankings, all-time:
    • Site-wide: 3,471
    • In genetics: 149
  • Year to date:
    • Site-wide: 26,115
  • Since beginning of last month:
    • Site-wide: 26,158

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

genetics more details view paper
  • Downloaded 3,127 times
  • Download rankings, all-time:
    • Site-wide: 3,668
    • In genetics: 161
  • Year to date:
    • Site-wide: 55,709
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 3,069 times
  • Download rankings, all-time:
    • Site-wide: 3,747
    • In genetics: 167
  • Year to date:
    • Site-wide: 39,415
  • Since beginning of last month:
    • Site-wide: 51,372

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

genomics more details view paper
  • Downloaded 2,810 times
  • Download rankings, all-time:
    • Site-wide: 4,223
    • In genomics: 488
  • Year to date:
    • Site-wide: 5,329
  • Since beginning of last month:
    • Site-wide: 3,890

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

bioinformatics more details view paper
  • Downloaded 2,041 times
  • Download rankings, all-time:
    • Site-wide: 6,760
    • In bioinformatics: 811
  • Year to date:
    • Site-wide: 37,627
  • Since beginning of last month:
    • Site-wide: 32,799

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

genetics more details view paper
  • Downloaded 1,826 times
  • Download rankings, all-time:
    • Site-wide: 7,969
    • In genetics: 387
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: None

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 1,640 times
  • Download rankings, all-time:
    • Site-wide: 9,419
    • In genetics: 461
  • Year to date:
    • Site-wide: 65,230
  • Since beginning of last month:
    • Site-wide: 63,704

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

genetics more details view paper
  • Downloaded 1,637 times
  • Download rankings, all-time:
    • Site-wide: 9,448
    • In genetics: 464
  • Year to date:
    • Site-wide: 80,032
  • Since beginning of last month:
    • Site-wide: 77,425

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 1,315 times
  • Download rankings, all-time:
    • Site-wide: 13,045
    • In genetics: 660
  • Year to date:
    • Site-wide: 8,121
  • Since beginning of last month:
    • Site-wide: 7,784

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

public and global health more details view paper
  • Downloaded 1,254 times
  • Download rankings, all-time:
    • Site-wide: 14,000
    • In public and global health: 256
  • Year to date:
    • Site-wide: 7,670
  • Since beginning of last month:
    • Site-wide: 3,310

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 1,240 times
  • Download rankings, all-time:
    • Site-wide: 14,256
    • In genomics: 1,515
  • Year to date:
    • Site-wide: 57,008
  • Since beginning of last month:
    • Site-wide: 45,980

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

genetics more details view paper
  • Downloaded 1,235 times
  • Download rankings, all-time:
    • Site-wide: 14,361
    • In genetics: 736
  • Year to date:
    • Site-wide: 20,012
  • Since beginning of last month:
    • Site-wide: 11,038

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

genetics more details view paper
  • Downloaded 1,026 times
  • Download rankings, all-time:
    • Site-wide: 19,017
    • In genetics: 946
  • Year to date:
    • Site-wide: 6,568
  • Since beginning of last month:
    • Site-wide: 6,681

Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
  • Downloaded 954 times
  • Download rankings, all-time:
    • Site-wide: 21,058
    • In bioinformatics: 2,531
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: None

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 834 times
  • Download rankings, all-time:
    • Site-wide: 25,521
    • In genetics: 1,260
  • Year to date:
    • Site-wide: 72,676
  • Since beginning of last month:
    • Site-wide: 56,430

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 813 times
  • Download rankings, all-time:
    • Site-wide: 26,434
    • In genetics: 1,315
  • Year to date:
    • Site-wide: 47,821
  • Since beginning of last month:
    • Site-wide: 65,378

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 809 times
  • Download rankings, all-time:
    • Site-wide: 26,617
    • In genetics: 1,328
  • Year to date:
    • Site-wide: 27,277
  • Since beginning of last month:
    • Site-wide: 16,462

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 798 times
  • Download rankings, all-time:
    • Site-wide: 27,100
    • In genetics: 1,350
  • Year to date:
    • Site-wide: 26,541
  • Since beginning of last month:
    • Site-wide: 45,487

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

genomics more details view paper
  • Downloaded 793 times
  • Download rankings, all-time:
    • Site-wide: 27,381
    • In genomics: 2,577
  • Year to date:
    • Site-wide: 47,826
  • Since beginning of last month:
    • Site-wide: 56,013

Spread of Covid-19 in the United States is controlled

epidemiology more details view paper
  • Downloaded 784 times
  • Download rankings, all-time:
    • Site-wide: 27,771
    • In epidemiology: 1,447
  • Year to date:
    • Site-wide: 26,549
  • Since beginning of last month:
    • Site-wide: 20,016

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

genetic and genomic medicine more details view paper
  • Downloaded 765 times
  • Download rankings, all-time:
    • Site-wide: 28,780
    • In genetic and genomic medicine: 82
  • Year to date:
    • Site-wide: 25,957
  • Since beginning of last month:
    • Site-wide: 24,050

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 741 times
  • Download rankings, all-time:
    • Site-wide: 30,062
    • In genetics: 1,487
  • Year to date:
    • Site-wide: 16,220
  • Since beginning of last month:
    • Site-wide: 29,571

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

genetics more details view paper
  • Downloaded 730 times
  • Download rankings, all-time:
    • Site-wide: 30,705
    • In genetics: 1,524
  • Year to date:
    • Site-wide: 36,423
  • Since beginning of last month:
    • Site-wide: 23,871

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 711 times
  • Download rankings, all-time:
    • Site-wide: 31,900
    • In genetics: 1,583
  • Year to date:
    • Site-wide: 15,168
  • Since beginning of last month:
    • Site-wide: 11,650

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 664 times
  • Download rankings, all-time:
    • Site-wide: 34,962
    • In genomics: 3,066
  • Year to date:
    • Site-wide: 45,813
  • Since beginning of last month:
    • Site-wide: 46,888

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

genomics more details view paper
  • Downloaded 604 times
  • Download rankings, all-time:
    • Site-wide: 39,443
    • In genomics: 3,328
  • Year to date:
    • Site-wide: 52,007
  • Since beginning of last month:
    • Site-wide: 30,943

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

genetics more details view paper
  • Downloaded 601 times
  • Download rankings, all-time:
    • Site-wide: 39,704
    • In genetics: 1,920
  • Year to date:
    • Site-wide: 68,405
  • Since beginning of last month:
    • Site-wide: 62,849

Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
  • Downloaded 573 times
  • Download rankings, all-time:
    • Site-wide: 42,104
    • In genetics: 2,027
  • Year to date:
    • Site-wide: 103,750
  • Since beginning of last month:
    • Site-wide: 88,693

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 561 times
  • Download rankings, all-time:
    • Site-wide: 43,374
    • In genetics: 2,087
  • Year to date:
    • Site-wide: 83,134
  • Since beginning of last month:
    • Site-wide: 46,343

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 527 times
  • Download rankings, all-time:
    • Site-wide: 46,748
    • In pharmacology and toxicology: 267
  • Year to date:
    • Site-wide: 86,959
  • Since beginning of last month:
    • Site-wide: 56,381

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 520 times
  • Download rankings, all-time:
    • Site-wide: 47,430
    • In epidemiology: 2,137
  • Year to date:
    • Site-wide: 104,856
  • Since beginning of last month:
    • Site-wide: 81,444

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

genomics more details view paper
  • Downloaded 511 times
  • Download rankings, all-time:
    • Site-wide: 48,433
    • In genomics: 3,864
  • Year to date:
    • Site-wide: 86,957
  • Since beginning of last month:
    • Site-wide: 79,849

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 504 times
  • Download rankings, all-time:
    • Site-wide: 49,209
    • In genetics: 2,351
  • Year to date:
    • Site-wide: 3,768
  • Since beginning of last month:
    • Site-wide: None

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 501 times
  • Download rankings, all-time:
    • Site-wide: 49,640
    • In genomics: 3,928
  • Year to date:
    • Site-wide: 109,166
  • Since beginning of last month:
    • Site-wide: 98,130

Genetic insights into the biological mechanisms governing human ovarian ageing

sexual and reproductive health more details view paper
  • Downloaded 470 times
  • Download rankings, all-time:
    • Site-wide: 53,383
    • In sexual and reproductive health: 20
  • Year to date:
    • Site-wide: 1,404
  • Since beginning of last month:
    • Site-wide: 1,626

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

genomics more details view paper
  • Downloaded 391 times
  • Download rankings, all-time:
    • Site-wide: 64,428
    • In genomics: 4,641
  • Year to date:
    • Site-wide: 82,159
  • Since beginning of last month:
    • Site-wide: 64,336

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

hematology more details view paper
  • Downloaded 378 times
  • Download rankings, all-time:
    • Site-wide: 66,491
    • In hematology: 40
  • Year to date:
    • Site-wide: 4,762
  • Since beginning of last month:
    • Site-wide: 4,829

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 374 times
  • Download rankings, all-time:
    • Site-wide: 67,205
    • In genetics: 3,141
  • Year to date:
    • Site-wide: 68,774
  • Since beginning of last month:
    • Site-wide: 84,554

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

genetics more details view paper
  • Downloaded 369 times
  • Download rankings, all-time:
    • Site-wide: 68,007
    • In genetics: 3,171
  • Year to date:
    • Site-wide: 111,123
  • Since beginning of last month:
    • Site-wide: 83,398

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 368 times
  • Download rankings, all-time:
    • Site-wide: 68,243
    • In genetic and genomic medicine: 201
  • Year to date:
    • Site-wide: 20,710
  • Since beginning of last month:
    • Site-wide: 18,653

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 368 times
  • Download rankings, all-time:
    • Site-wide: 68,219
    • In epidemiology: 2,838
  • Year to date:
    • Site-wide: 16,357
  • Since beginning of last month:
    • Site-wide: 18,401

Increased CHIP Prevalence Amongst People Living with HIV

genetic and genomic medicine more details view paper
  • Downloaded 367 times
  • Download rankings, all-time:
    • Site-wide: 68,465
    • In genetic and genomic medicine: 203
  • Year to date:
    • Site-wide: 16,534
  • Since beginning of last month:
    • Site-wide: 10,608

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

epidemiology more details view paper
  • Downloaded 357 times
  • Download rankings, all-time:
    • Site-wide: 70,058
    • In epidemiology: 2,910
  • Year to date:
    • Site-wide: 73,658
  • Since beginning of last month:
    • Site-wide: 54,797

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

genetics more details view paper
  • Downloaded 325 times
  • Download rankings, all-time:
    • Site-wide: 75,714
    • In genetics: 3,515
  • Year to date:
    • Site-wide: 93,789
  • Since beginning of last month:
    • Site-wide: None

De novo mutation in ancestral generations evolves haplotypes contributing to disease

genomics more details view paper
  • Downloaded 306 times
  • Download rankings, all-time:
    • Site-wide: 79,323
    • In genomics: 5,245
  • Year to date:
    • Site-wide: 58,520
  • Since beginning of last month:
    • Site-wide: 60,713

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

epidemiology more details view paper
  • Downloaded 290 times
  • Download rankings, all-time:
    • Site-wide: 82,544
    • In epidemiology: 3,379
  • Year to date:
    • Site-wide: 63,929
  • Since beginning of last month:
    • Site-wide: 51,613

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

epidemiology more details view paper
  • Downloaded 277 times
  • Download rankings, all-time:
    • Site-wide: 85,287
    • In epidemiology: 3,491
  • Year to date:
    • Site-wide: 25,935
  • Since beginning of last month:
    • Site-wide: 17,112

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

bioinformatics more details view paper
  • Downloaded 276 times
  • Download rankings, all-time:
    • Site-wide: 85,453
    • In bioinformatics: 7,670
  • Year to date:
    • Site-wide: None
  • 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

genetic and genomic medicine more details view paper
  • Downloaded 271 times
  • Download rankings, all-time:
    • Site-wide: 86,658
    • In genetic and genomic medicine: 291
  • Year to date:
    • Site-wide: 21,874
  • Since beginning of last month:
    • Site-wide: 20,003

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 269 times
  • Download rankings, all-time:
    • Site-wide: 87,049
    • In genetics: 3,992
  • Year to date:
    • Site-wide: 103,271
  • Since beginning of last month:
    • Site-wide: 75,505

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

genetics more details view paper
  • Downloaded 264 times
  • Download rankings, all-time:
    • Site-wide: 88,154
    • In genetics: 4,038
  • Year to date:
    • Site-wide: 109,825
  • Since beginning of last month:
    • Site-wide: 81,714

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

genetics more details view paper
  • Downloaded 261 times
  • Download rankings, all-time:
    • Site-wide: 88,674
    • In genetics: 4,052
  • Year to date:
    • Site-wide: 81,035
  • Since beginning of last month:
    • Site-wide: None

Analysis of putative cis-regulatory elements regulating blood pressure variation

genomics more details view paper
  • Downloaded 225 times
  • Download rankings, all-time:
    • Site-wide: 96,438
    • In genomics: 5,861
  • Year to date:
    • Site-wide: 76,905
  • Since beginning of last month:
    • Site-wide: 33,258

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

cardiovascular medicine more details view paper
  • Downloaded 224 times
  • Download rankings, all-time:
    • Site-wide: 96,771
    • In cardiovascular medicine: 173
  • Year to date:
    • Site-wide: 80,359
  • Since beginning of last month:
    • Site-wide: 73,550

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

genomics more details view paper
  • Downloaded 199 times
  • Download rankings, all-time:
    • Site-wide: 102,161
    • In genomics: 6,025
  • Year to date:
    • Site-wide: 101,479
  • Since beginning of last month:
    • Site-wide: 103,362

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 148 times
  • Download rankings, all-time:
    • Site-wide: 112,579
    • In genetic and genomic medicine: 489
  • Year to date:
    • Site-wide: 7,117
  • Since beginning of last month:
    • Site-wide: 13,954

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 148 times
  • Download rankings, all-time:
    • Site-wide: 112,606
    • In genetic and genomic medicine: 488
  • Year to date:
    • Site-wide: 7,114
  • Since beginning of last month:
    • Site-wide: 11,392

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 107 times
  • Download rankings, all-time:
    • Site-wide: 120,107
    • In genetics: 5,154
  • Year to date:
    • Site-wide: 93,191
  • Since beginning of last month:
    • Site-wide: 60,342

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