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Author: Eric Boerwinkle

  • ORCiD: http://orcid.org/0000-0001-8813-0544
  • Most recently observed institution: Epidemiology, Human Genetics and Environmental Sciences, University of Texas Health Science Center at Houston

Rankings

  • All-time downloads: 72,741 (rank: 1,894 )
  • Categories:
    • bioinformatics: 7,134 (rank: 1,372 )
    • cardiovascular medicine: 240 (rank: 1,865 (tie) )
    • epidemiology: 2,733 (rank: 3,937 )
    • genetic and genomic medicine: 2,490 (rank: 494 )
    • genetics: 40,607 (rank: 111 )
    • genomics: 16,611 (rank: 794 )
    • hematology: 467 (rank: 441 (tie) )
    • pharmacology and toxicology: 540 (rank: 2,337 (tie) )
    • public and global health: 1,332 (rank: 2,612 (tie) )
    • sexual and reproductive health: 587 (rank: 184 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 11,519 times
  • Download rankings, all-time:
    • Site-wide: 662
    • In genetics: 17
  • Year to date:
    • Site-wide: 3,000
  • Since beginning of last month:
    • Site-wide: 5,248

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

genomics more details view paper
  • Downloaded 8,181 times
  • Download rankings, all-time:
    • Site-wide: 1,042
    • In genomics: 94
  • Year to date:
    • Site-wide: 2,193
  • Since beginning of last month:
    • Site-wide: 4,808

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

bioinformatics more details view paper
  • Downloaded 3,738 times
  • Download rankings, all-time:
    • Site-wide: 3,016
    • In bioinformatics: 289
  • Year to date:
    • Site-wide: 15,395
  • Since beginning of last month:
    • Site-wide: 20,264

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 3,261 times
  • Download rankings, all-time:
    • Site-wide: 3,677
    • In genetics: 151
  • Year to date:
    • Site-wide: 40,507
  • Since beginning of last month:
    • Site-wide: 87,050

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

genetics more details view paper
  • Downloaded 3,179 times
  • Download rankings, all-time:
    • Site-wide: 3,814
    • In genetics: 160
  • Year to date:
    • Site-wide: 34,725
  • Since beginning of last month:
    • Site-wide: 35,847

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

genetics more details view paper
  • Downloaded 3,082 times
  • Download rankings, all-time:
    • Site-wide: 3,975
    • In genetics: 168
  • Year to date:
    • Site-wide: 54,308
  • Since beginning of last month:
    • Site-wide: 72,291

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

genomics more details view paper
  • Downloaded 2,882 times
  • Download rankings, all-time:
    • Site-wide: 4,361
    • In genomics: 489
  • Year to date:
    • Site-wide: 7,793
  • Since beginning of last month:
    • Site-wide: 10,076

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

bioinformatics more details view paper
  • Downloaded 2,064 times
  • Download rankings, all-time:
    • Site-wide: 7,124
    • In bioinformatics: 848
  • Year to date:
    • Site-wide: 45,164
  • Since beginning of last month:
    • Site-wide: 40,771

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

genetics more details view paper
  • Downloaded 1,851 times
  • Download rankings, all-time:
    • Site-wide: 8,388
    • In genetics: 393
  • Year to date:
    • Site-wide: 87,764
  • Since beginning of last month:
    • Site-wide: 88,900

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

genetics more details view paper
  • Downloaded 1,660 times
  • Download rankings, all-time:
    • Site-wide: 9,872
    • In genetics: 469
  • Year to date:
    • Site-wide: 64,880
  • Since beginning of last month:
    • Site-wide: 45,358

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 1,655 times
  • Download rankings, all-time:
    • Site-wide: 9,928
    • In genetics: 475
  • Year to date:
    • Site-wide: 69,906
  • Since beginning of last month:
    • Site-wide: 55,140

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 1,455 times
  • Download rankings, all-time:
    • Site-wide: 11,956
    • In genetics: 583
  • Year to date:
    • Site-wide: 6,991
  • Since beginning of last month:
    • Site-wide: 5,351

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

public and global health more details view paper
  • Downloaded 1,332 times
  • Download rankings, all-time:
    • Site-wide: 13,689
    • In public and global health: 279
  • Year to date:
    • Site-wide: 9,688
  • Since beginning of last month:
    • Site-wide: 11,105

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

genetics more details view paper
  • Downloaded 1,303 times
  • Download rankings, all-time:
    • Site-wide: 14,170
    • In genetics: 694
  • Year to date:
    • Site-wide: 18,683
  • Since beginning of last month:
    • Site-wide: 12,956

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 1,243 times
  • Download rankings, all-time:
    • Site-wide: 15,227
    • In genomics: 1,578
  • Year to date:
    • Site-wide: 87,318
  • Since beginning of last month:
    • Site-wide: 120,296

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

genetics more details view paper
  • Downloaded 1,165 times
  • Download rankings, all-time:
    • Site-wide: 16,765
    • In genetics: 821
  • Year to date:
    • Site-wide: 6,231
  • Since beginning of last month:
    • Site-wide: 6,192

Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
  • Downloaded 1,011 times
  • Download rankings, all-time:
    • Site-wide: 20,650
    • In bioinformatics: 2,464
  • Year to date:
    • Site-wide: 45,231
  • Since beginning of last month:
    • Site-wide: 45,144

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 877 times
  • Download rankings, all-time:
    • Site-wide: 25,360
    • In genetics: 1,223
  • Year to date:
    • Site-wide: 19,255
  • Since beginning of last month:
    • Site-wide: 10,875

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 840 times
  • Download rankings, all-time:
    • Site-wide: 26,897
    • In genetics: 1,302
  • Year to date:
    • Site-wide: 93,077
  • Since beginning of last month:
    • Site-wide: 96,645

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 833 times
  • Download rankings, all-time:
    • Site-wide: 27,181
    • In genetics: 1,316
  • Year to date:
    • Site-wide: 36,285
  • Since beginning of last month:
    • Site-wide: 38,022

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 825 times
  • Download rankings, all-time:
    • Site-wide: 27,574
    • In genetics: 1,335
  • Year to date:
    • Site-wide: 62,638
  • Since beginning of last month:
    • Site-wide: 71,245

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

genomics more details view paper
  • Downloaded 814 times
  • Download rankings, all-time:
    • Site-wide: 28,125
    • In genomics: 2,600
  • Year to date:
    • Site-wide: 52,651
  • Since beginning of last month:
    • Site-wide: 42,224

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

genetic and genomic medicine more details view paper
  • Downloaded 811 times
  • Download rankings, all-time:
    • Site-wide: 28,248
    • In genetic and genomic medicine: 89
  • Year to date:
    • Site-wide: 26,941
  • Since beginning of last month:
    • Site-wide: 22,204

Spread of Covid-19 in the United States is controlled

epidemiology more details view paper
  • Downloaded 795 times
  • Download rankings, all-time:
    • Site-wide: 29,054
    • In epidemiology: 1,522
  • Year to date:
    • Site-wide: 43,434
  • Since beginning of last month:
    • Site-wide: 69,657

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 794 times
  • Download rankings, all-time:
    • Site-wide: 29,119
    • In genetics: 1,409
  • Year to date:
    • Site-wide: 14,029
  • Since beginning of last month:
    • Site-wide: 10,559

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 784 times
  • Download rankings, all-time:
    • Site-wide: 29,609
    • In genetics: 1,438
  • Year to date:
    • Site-wide: 20,910
  • Since beginning of last month:
    • Site-wide: 22,486

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

genetics more details view paper
  • Downloaded 741 times
  • Download rankings, all-time:
    • Site-wide: 32,096
    • In genetics: 1,553
  • Year to date:
    • Site-wide: 54,095
  • Since beginning of last month:
    • Site-wide: 70,674

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 667 times
  • Download rankings, all-time:
    • Site-wide: 36,971
    • In genomics: 3,149
  • Year to date:
    • Site-wide: 75,090
  • Since beginning of last month:
    • Site-wide: 107,864

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

genomics more details view paper
  • Downloaded 624 times
  • Download rankings, all-time:
    • Site-wide: 40,261
    • In genomics: 3,350
  • Year to date:
    • Site-wide: 56,267
  • Since beginning of last month:
    • Site-wide: 48,927

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 617 times
  • Download rankings, all-time:
    • Site-wide: 40,892
    • In genetics: 1,943
  • Year to date:
    • Site-wide: 5,002
  • Since beginning of last month:
    • Site-wide: 15,504

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

genetics more details view paper
  • Downloaded 613 times
  • Download rankings, all-time:
    • Site-wide: 41,204
    • In genetics: 1,953
  • Year to date:
    • Site-wide: 77,047
  • Since beginning of last month:
    • Site-wide: 71,094

Genetic insights into the biological mechanisms governing human ovarian ageing

sexual and reproductive health more details view paper
  • Downloaded 587 times
  • Download rankings, all-time:
    • Site-wide: 43,555
    • In sexual and reproductive health: 18
  • Year to date:
    • Site-wide: 2,346
  • Since beginning of last month:
    • Site-wide: 7,099

Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
  • Downloaded 579 times
  • Download rankings, all-time:
    • Site-wide: 44,238
    • In genetics: 2,073
  • Year to date:
    • Site-wide: 115,324
  • Since beginning of last month:
    • Site-wide: 97,468

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 570 times
  • Download rankings, all-time:
    • Site-wide: 45,109
    • In genetics: 2,121
  • Year to date:
    • Site-wide: 93,053
  • Since beginning of last month:
    • Site-wide: 79,064

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 540 times
  • Download rankings, all-time:
    • Site-wide: 48,202
    • In pharmacology and toxicology: 281
  • Year to date:
    • Site-wide: 86,646
  • Since beginning of last month:
    • Site-wide: 56,094

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 524 times
  • Download rankings, all-time:
    • Site-wide: 49,879
    • In epidemiology: 2,239
  • Year to date:
    • Site-wide: 120,915
  • Since beginning of last month:
    • Site-wide: 119,465

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

genomics more details view paper
  • Downloaded 519 times
  • Download rankings, all-time:
    • Site-wide: 50,507
    • In genomics: 3,955
  • Year to date:
    • Site-wide: 97,601
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    • Site-wide: 90,554

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 506 times
  • Download rankings, all-time:
    • Site-wide: 52,036
    • In genomics: 4,036
  • Year to date:
    • Site-wide: 120,060
  • Since beginning of last month:
    • Site-wide: 116,900

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

hematology more details view paper
  • Downloaded 467 times
  • Download rankings, all-time:
    • Site-wide: 57,006
    • In hematology: 34
  • Year to date:
    • Site-wide: 6,538
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    • Site-wide: 12,182

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 453 times
  • Download rankings, all-time:
    • Site-wide: 58,833
    • In epidemiology: 2,542
  • Year to date:
    • Site-wide: 14,458
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    • Site-wide: 12,149

Increased CHIP Prevalence Amongst People Living with HIV

genetic and genomic medicine more details view paper
  • Downloaded 420 times
  • Download rankings, all-time:
    • Site-wide: 63,579
    • In genetic and genomic medicine: 201
  • Year to date:
    • Site-wide: 19,360
  • Since beginning of last month:
    • Site-wide: 27,164

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

genomics more details view paper
  • Downloaded 409 times
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    • Site-wide: 65,379
    • In genomics: 4,666
  • Year to date:
    • Site-wide: 72,987
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    • Site-wide: 57,910

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 407 times
  • Download rankings, all-time:
    • Site-wide: 65,658
    • In genetic and genomic medicine: 212
  • Year to date:
    • Site-wide: 25,410
  • Since beginning of last month:
    • Site-wide: 27,771

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 396 times
  • Download rankings, all-time:
    • Site-wide: 67,467
    • In genetics: 3,098
  • Year to date:
    • Site-wide: 61,364
  • Since beginning of last month:
    • Site-wide: 70,581

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

genetics more details view paper
  • Downloaded 371 times
  • Download rankings, all-time:
    • Site-wide: 71,445
    • In genetics: 3,264
  • Year to date:
    • Site-wide: 130,540
  • Since beginning of last month:
    • Site-wide: 126,165

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

epidemiology more details view paper
  • Downloaded 367 times
  • Download rankings, all-time:
    • Site-wide: 72,230
    • In epidemiology: 3,036
  • Year to date:
    • Site-wide: 85,953
  • Since beginning of last month:
    • Site-wide: 86,720

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 361 times
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    • Site-wide: 73,217
    • In genetics: 3,354
  • Year to date:
    • Site-wide: 4,658
  • Since beginning of last month:
    • Site-wide: 1,326

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

genetics more details view paper
  • Downloaded 345 times
  • Download rankings, all-time:
    • Site-wide: 76,150
    • In genetics: 3,482
  • Year to date:
    • Site-wide: 76,020
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    • Site-wide: 53,457

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

bioinformatics more details view paper
  • Downloaded 321 times
  • Download rankings, all-time:
    • Site-wide: 80,797
    • In bioinformatics: 7,397
  • Year to date:
    • Site-wide: 55,841
  • Since beginning of last month:
    • Site-wide: 39,077

De novo mutation in ancestral generations evolves haplotypes contributing to disease

genomics more details view paper
  • Downloaded 320 times
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    • Site-wide: 81,052
    • In genomics: 5,303
  • Year to date:
    • Site-wide: 67,625
  • Since beginning of last month:
    • Site-wide: 57,771

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 320 times
  • Download rankings, all-time:
    • Site-wide: 81,123
    • In genetic and genomic medicine: 285
  • Year to date:
    • Site-wide: 23,642
  • Since beginning of last month:
    • Site-wide: 20,822

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

epidemiology more details view paper
  • Downloaded 301 times
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    • Site-wide: 84,910
    • In epidemiology: 3,494
  • Year to date:
    • Site-wide: 77,391
  • Since beginning of last month:
    • Site-wide: 79,547

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

epidemiology more details view paper
  • Downloaded 293 times
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    • Site-wide: 86,599
    • In epidemiology: 3,556
  • Year to date:
    • Site-wide: 39,612
  • Since beginning of last month:
    • Site-wide: 53,718

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

genetics more details view paper
  • Downloaded 281 times
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    • Site-wide: 89,187
    • In genetics: 4,022
  • Year to date:
    • Site-wide: 70,557
  • Since beginning of last month:
    • Site-wide: 68,034

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 274 times
  • Download rankings, all-time:
    • Site-wide: 90,695
    • In genetics: 4,085
  • Year to date:
    • Site-wide: 117,365
  • Since beginning of last month:
    • Site-wide: 101,039

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

genetics more details view paper
  • Downloaded 268 times
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    • Site-wide: 92,035
    • In genetics: 4,141
  • Year to date:
    • Site-wide: 123,272
  • Since beginning of last month:
    • Site-wide: 112,705

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

cardiovascular medicine more details view paper
  • Downloaded 240 times
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    • Site-wide: 98,037
    • In cardiovascular medicine: 184
  • Year to date:
    • Site-wide: 78,097
  • Since beginning of last month:
    • Site-wide: 57,080

Analysis of putative cis-regulatory elements regulating blood pressure variation

genomics more details view paper
  • Downloaded 236 times
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    • Site-wide: 99,115
    • In genomics: 5,958
  • Year to date:
    • Site-wide: 85,389
  • Since beginning of last month:
    • Site-wide: 68,543

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

genomics more details view paper
  • Downloaded 210 times
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    • Site-wide: 104,866
    • In genomics: 6,130
  • Year to date:
    • Site-wide: 98,746
  • Since beginning of last month:
    • Site-wide: 75,307

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

genetic and genomic medicine more details view paper
  • Downloaded 183 times
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    • Site-wide: 110,865
    • In genetic and genomic medicine: 484
  • Year to date:
    • Site-wide: 12,207
  • Since beginning of last month:
    • Site-wide: 3,437

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 178 times
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    • Site-wide: 111,777
    • In genetic and genomic medicine: 497
  • Year to date:
    • Site-wide: 12,724
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    • Site-wide: 37,309

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 171 times
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    • Site-wide: 113,402
    • In genetic and genomic medicine: 512
  • Year to date:
    • Site-wide: 13,305
  • Since beginning of last month:
    • Site-wide: 41,735

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 108 times
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    • Site-wide: 125,776
    • In genetics: 5,292
  • Year to date:
    • Site-wide: 124,899
  • Since beginning of last month:
    • Site-wide: 132,829

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