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Author: Eric Boerwinkle

Rankings

  • All-time downloads: 45,953 (rank: 425 out of 333,385)
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    • bioinformatics: 5,140 (rank: 1,365 out of 28,737)
    • epidemiology: 872 (rank: 1,423 (tie) out of 9,539)
    • genetics: 29,851 (rank: 151 out of 32,371)
    • genomics: 9,681 (rank: 1,281 out of 36,815)
    • pharmacology and toxicology: 409 (rank: 1,197 (tie) out of 4,239)

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Preprints

Recovery of trait heritability from whole genome sequence data

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

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

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

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

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Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

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

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

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

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

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

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

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

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Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

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

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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

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Genome-wide Association Study Links APOEϵ4 and BACE1 Variants with Plasma Amyloid β Levels

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

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

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

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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

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

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Discovering patterns of pleiotropy in genome-wide association studies

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

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

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

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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

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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

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

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

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

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

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

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

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

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Analysis of putative cis-regulatory elements regulating blood pressure variation

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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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