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Author: Eric Boerwinkle

Rankings

  • All-time downloads: 115,670 (rank: 1,566 )
  • Categories:
    • bioinformatics: 8,721 (rank: 1,552 )
    • cardiovascular medicine: 341 (rank: 3,725 (tie) )
    • epidemiology: 3,923 (rank: 5,025 )
    • genetic and genomic medicine: 9,531 (rank: 200 )
    • genetics: 62,074 (rank: 67 )
    • genomics: 19,973 (rank: 835 )
    • hematology: 1,806 (rank: 254 )
    • infectious diseases: 1,643 (rank: 27,124 (tie) )
    • pharmacology and toxicology: 628 (rank: 3,895 (tie) )
    • public and global health: 2,572 (rank: 2,656 )
    • sexual and reproductive health: 2,505 (rank: 158 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
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    • Site-wide: 801
    • In genetics: 14
  • Year to date:
    • Site-wide: 2,871
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    • Site-wide: 6,442

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

genomics more details view paper
  • Downloaded 9,167 times
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    • Site-wide: 1,471
    • In genomics: 99
  • Year to date:
    • Site-wide: 12,088
  • Since beginning of last month:
    • Site-wide: 11,255

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

genetics more details view paper
  • Downloaded 5,711 times
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    • Site-wide: 2,775
    • In genetics: 83
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    • Site-wide: 463

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

bioinformatics more details view paper
  • Downloaded 4,276 times
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    • Site-wide: 4,107
    • In bioinformatics: 336
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    • Site-wide: 35,102

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 3,489 times
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    • Site-wide: 5,518
    • In genetics: 183
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    • Site-wide: 74,174
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    • Site-wide: 24,992

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

genetics more details view paper
  • Downloaded 3,476 times
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    • Site-wide: 5,564
    • In genetics: 185
  • Year to date:
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    • Site-wide: 43,334

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

genomics more details view paper
  • Downloaded 3,469 times
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    • Site-wide: 5,581
    • In genomics: 526
  • Year to date:
    • Site-wide: 32,065
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    • Site-wide: 8,353

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

genetics more details view paper
  • Downloaded 3,393 times
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    • Site-wide: 5,777
    • In genetics: 194
  • Year to date:
    • Site-wide: 83,453
  • Since beginning of last month:
    • Site-wide: 126,022

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 2,948 times
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    • Site-wide: 7,069
    • In genetic and genomic medicine: 41
  • Year to date:
    • Site-wide: 2,326
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Genetic insights into the biological mechanisms governing human ovarian ageing

sexual and reproductive health more details view paper
  • Downloaded 2,533 times
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    • Site-wide: 8,827
    • In sexual and reproductive health: 13
  • Year to date:
    • Site-wide: 21,129
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    • Site-wide: 18,250

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

genetics more details view paper
  • Downloaded 2,472 times
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    • Site-wide: 9,134
    • In genetics: 368
  • Year to date:
    • Site-wide: 2,065
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    • Site-wide: 6,171

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 2,397 times
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    • Site-wide: 9,563
    • In genetics: 376
  • Year to date:
    • Site-wide: 32,736
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    • Site-wide: 24,769

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

bioinformatics more details view paper
  • Downloaded 2,306 times
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    • Site-wide: 10,151
    • In bioinformatics: 1,055
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    • Site-wide: 86,786
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    • Site-wide: 127,590

Clonal hematopoiesis is driven by aberrant activation of TCL1A

genetics more details view paper
  • Downloaded 2,077 times
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    • Site-wide: 11,910
    • In genetics: 502
  • Year to date:
    • Site-wide: 1,563
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    • Site-wide: 4,216

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

public and global health more details view paper
  • Downloaded 1,988 times
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    • Site-wide: 12,688
    • In public and global health: 339
  • Year to date:
    • Site-wide: 14,989
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    • Site-wide: 23,765

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

genetics more details view paper
  • Downloaded 1,950 times
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    • Site-wide: 13,046
    • In genetics: 506
  • Year to date:
    • Site-wide: 151,153
  • Since beginning of last month:
    • Site-wide: 44,356

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

genetics more details view paper
  • Downloaded 1,888 times
  • Download rankings, all-time:
    • Site-wide: 13,703
    • In genetics: 549
  • Year to date:
    • Site-wide: 68,822
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    • Site-wide: 11,284

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

genetics more details view paper
  • Downloaded 1,815 times
  • Download rankings, all-time:
    • Site-wide: 14,530
    • In genetics: 581
  • Year to date:
    • Site-wide: 66,158
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    • 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 1,799 times
  • Download rankings, all-time:
    • Site-wide: 14,750
    • In genetics: 599
  • Year to date:
    • Site-wide: 114,977
  • Since beginning of last month:
    • Site-wide: 121,594

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

genetics more details view paper
  • Downloaded 1,669 times
  • Download rankings, all-time:
    • Site-wide: 16,510
    • In genetics: 677
  • Year to date:
    • Site-wide: 67,602
  • Since beginning of last month:
    • Site-wide: 34,422

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 1,536 times
  • Download rankings, all-time:
    • Site-wide: 18,793
    • In genetics: 769
  • Year to date:
    • Site-wide: 42,392
  • Since beginning of last month:
    • Site-wide: 110,091

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 1,383 times
  • Download rankings, all-time:
    • Site-wide: 22,194
    • In genomics: 1,934
  • Year to date:
    • Site-wide: 126,825
  • Since beginning of last month:
    • Site-wide: 73,137

Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
  • Downloaded 1,299 times
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    • Site-wide: 24,492
    • In bioinformatics: 2,646
  • Year to date:
    • Site-wide: 69,815
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    • Site-wide: 68,977

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,271 times
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    • Site-wide: 25,368
    • In genetics: 1,018
  • Year to date:
    • Site-wide: 96,939
  • Since beginning of last month:
    • Site-wide: 84,327

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 1,262 times
  • Download rankings, all-time:
    • Site-wide: 25,636
    • In genetics: 1,079
  • Year to date:
    • Site-wide: 46,699
  • Since beginning of last month:
    • Site-wide: 11,305

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 1,109 times
  • Download rankings, all-time:
    • Site-wide: 31,379
    • In genetics: 1,280
  • Year to date:
    • Site-wide: 42,897
  • Since beginning of last month:
    • Site-wide: 42,731

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 1,088 times
  • Download rankings, all-time:
    • Site-wide: 32,283
    • In genetics: 1,306
  • Year to date:
    • Site-wide: 46,028
  • Since beginning of last month:
    • Site-wide: 103,557

Estimation of Total Immunity to SARS-CoV-2 in Texas

infectious diseases more details view paper
  • Downloaded 1,054 times
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    • Site-wide: 33,873
    • In infectious diseases: 3,017
  • Year to date:
    • Site-wide: 77,696
  • Since beginning of last month:
    • Site-wide: 98,556

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

genetic and genomic medicine more details view paper
  • Downloaded 1,050 times
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    • Site-wide: 34,086
    • In genetic and genomic medicine: 203
  • Year to date:
    • Site-wide: 110,191
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    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,029 times
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    • Site-wide: 35,205
    • In genomics: 2,851
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    • Site-wide: 95,181
  • Since beginning of last month:
    • Site-wide: 29,135

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 982 times
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    • Site-wide: 37,760
    • In genetics: 1,511
  • Year to date:
    • Site-wide: 188,864
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    • Site-wide: 159,896

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

hematology more details view paper
  • Downloaded 964 times
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    • Site-wide: 38,823
    • In hematology: 40
  • Year to date:
    • Site-wide: 76,223
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    • Site-wide: None

Spread of Covid-19 in the United States is controlled

epidemiology more details view paper
  • Downloaded 944 times
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    • Site-wide: 40,116
    • In epidemiology: 2,094
  • Year to date:
    • Site-wide: 145,890
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    • Site-wide: 107,000

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 931 times
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    • Site-wide: 40,946
    • In genetics: 1,636
  • Year to date:
    • Site-wide: 147,232
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    • Site-wide: 126,647

Clonal hematopoiesis and risk of chronic liver disease

hematology more details view paper
  • Downloaded 929 times
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    • Site-wide: 41,035
    • In hematology: 47
  • Year to date:
    • Site-wide: 3,103
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    • Site-wide: 5,229

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 901 times
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    • Site-wide: 42,955
    • In genetics: 1,700
  • Year to date:
    • Site-wide: 198,603
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Increased CHIP Prevalence Amongst People Living with HIV

genetic and genomic medicine more details view paper
  • Downloaded 856 times
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    • Site-wide: 46,397
    • In genetic and genomic medicine: 276
  • Year to date:
    • Site-wide: 55,213
  • Since beginning of last month:
    • Site-wide: 65,722

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

genetics more details view paper
  • Downloaded 855 times
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    • Site-wide: 46,543
    • In genetics: 1,850
  • Year to date:
    • Site-wide: 157,574
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    • Site-wide: 125,555

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

genomics more details view paper
  • Downloaded 819 times
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    • Site-wide: 49,630
    • In genomics: 3,692
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    • Site-wide: 115,696
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A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

genetics more details view paper
  • Downloaded 797 times
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    • Site-wide: 51,745
    • In genetics: 2,349
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    • Site-wide: 9,782
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    • Site-wide: 3,090

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

genetic and genomic medicine more details view paper
  • Downloaded 772 times
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    • Site-wide: 54,093
    • In genetic and genomic medicine: 322
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    • Site-wide: 24,456
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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

genomics more details view paper
  • Downloaded 737 times
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    • Site-wide: 57,828
    • In genomics: 4,067
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    • Site-wide: 183,778
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    • Site-wide: 118,316

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 730 times
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    • Site-wide: 58,630
    • In genetic and genomic medicine: 352
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    • Site-wide: 68,632
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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 710 times
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    • Site-wide: 61,115
    • In epidemiology: 2,935
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    • Site-wide: 127,652
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    • Site-wide: 32,231

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

genomics more details view paper
  • Downloaded 705 times
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    • Site-wide: 61,656
    • In genomics: 4,337
  • Year to date:
    • Site-wide: 37,182
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

genetics more details view paper
  • Downloaded 702 times
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    • Site-wide: 62,101
    • In genetics: 2,424
  • Year to date:
    • Site-wide: 172,886
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    • Site-wide: 91,807

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 692 times
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    • Site-wide: 63,272
    • In genetics: 2,484
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    • Site-wide: 159,374
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    • Site-wide: 72,173

Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
  • Downloaded 687 times
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    • Site-wide: 64,006
    • In genetics: 2,489
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    • Site-wide: 165,218
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    • Site-wide: 159,823

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

genetics more details view paper
  • Downloaded 641 times
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    • Site-wide: 70,374
    • In genetics: 2,837
  • Year to date:
    • Site-wide: 29,880
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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 637 times
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    • Site-wide: 70,990
    • In pharmacology and toxicology: 449
  • Year to date:
    • Site-wide: 144,998
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    • Site-wide: 73,503

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 635 times
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    • Site-wide: 71,287
    • In public and global health: 1,184
  • Year to date:
    • Site-wide: 42,353
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    • Site-wide: 58,535

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

genomics more details view paper
  • Downloaded 622 times
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    • Site-wide: 73,197
    • In genomics: 4,881
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    • Site-wide: 167,675
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    • Site-wide: 90,913

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 615 times
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    • Site-wide: 74,369
    • In genomics: 4,932
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    • Site-wide: 150,456
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    • Site-wide: 54,216

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 602 times
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    • Site-wide: 76,233
    • In epidemiology: 3,416
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    • Site-wide: 197,770
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    • Site-wide: 174,060

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

genomics more details view paper
  • Downloaded 596 times
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    • Site-wide: 77,131
    • In genomics: 5,061
  • Year to date:
    • Site-wide: 172,682
  • Since beginning of last month:
    • Site-wide: 75,070

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 557 times
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    • Site-wide: 84,014
    • In genetic and genomic medicine: 515
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    • Site-wide: 135,482
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De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation

genomics more details view paper
  • Downloaded 537 times
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    • Site-wide: 87,726
    • In genomics: 5,609
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    • Site-wide: 66,684
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    • Site-wide: 51,570

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

epidemiology more details view paper
  • Downloaded 506 times
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    • Site-wide: 94,019
    • In epidemiology: 4,140
  • Year to date:
    • Site-wide: 138,030
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    • Site-wide: 29,808

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

genetics more details view paper
  • Downloaded 498 times
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    • Site-wide: 95,751
    • In genetics: 3,655
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    • Site-wide: 146,292
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    • Site-wide: 105,401

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

epidemiology more details view paper
  • Downloaded 496 times
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    • Site-wide: 96,192
    • In epidemiology: 4,246
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    • Site-wide: 109,811
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    • Site-wide: 108,211

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

genetics more details view paper
  • Downloaded 489 times
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    • Site-wide: 97,744
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    • Site-wide: 107,170
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    • Site-wide: 119,752

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 476 times
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    • Site-wide: 100,884
    • In genetic and genomic medicine: 638
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    • Site-wide: 77,592
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    • Site-wide: 48,987

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

bioinformatics more details view paper
  • Downloaded 464 times
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    • Site-wide: 103,549
    • In bioinformatics: 8,738
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    • Site-wide: 136,067
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Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

genetic and genomic medicine more details view paper
  • Downloaded 456 times
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    • Site-wide: 105,400
    • In genetic and genomic medicine: 729
  • Year to date:
    • Site-wide: 19,236
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    • Site-wide: 15,012

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

genetic and genomic medicine more details view paper
  • Downloaded 455 times
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    • Site-wide: 105,702
    • In genetic and genomic medicine: 696
  • Year to date:
    • Site-wide: 15,135
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    • Site-wide: 18,882

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 451 times
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    • Site-wide: 106,703
    • In genetics: 4,057
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    • Site-wide: 199,671
  • Since beginning of last month:
    • Site-wide: 121,340

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

infectious diseases more details view paper
  • Downloaded 444 times
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    • Site-wide: 108,289
    • In infectious diseases: 5,605
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    • Site-wide: 108,120
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    • Site-wide: 99,426

A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA

bioinformatics more details view paper
  • Downloaded 442 times
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    • Site-wide: 108,814
    • In bioinformatics: 8,964
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    • Site-wide: 10,318
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population

genetic and genomic medicine more details view paper
  • Downloaded 429 times
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    • Site-wide: 111,980
    • In genetic and genomic medicine: 705
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    • Site-wide: 63,157
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    • Site-wide: 168,307

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

genetics more details view paper
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A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing Data

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

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

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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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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

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

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

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Analysis of putative cis-regulatory elements regulating blood pressure variation

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

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Blood metabolites predicting Mild Cognitive Impairment in the Study of Latinos-Investigation of Neurocognitive Aging (HCHS/SOL)

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Genetic Sex Validation for Sample Tracking in Clinical Testing

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Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results from Phase I of the Texas Coronavirus Antibody REsponse Survey (TX CARES)

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Epidemiology of Atrial Fibrillation in the All of Us Research Program

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