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Author: Eric Boerwinkle

Rankings

  • All-time downloads: 58,158 (rank: 703 out of 426,130)
  • Categories:
    • bioinformatics: 6,569 (rank: 1,316 out of 36,205)
    • epidemiology: 1,079 (rank: 1,371 (tie) out of 9,545)
    • genetics: 35,551 (rank: 134 out of 38,003)
    • genomics: 14,474 (rank: 884 out of 44,631)
    • pharmacology and toxicology: 485 (rank: 1,896 (tie) out of 6,400)

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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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Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

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

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

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

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

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

genetics more details view paper
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Hardy Weinberg Exact Test In Large Scale Variant Calling Quality Control

bioinformatics more details view paper
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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

genetics more details view paper
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Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

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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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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
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

genetics more details view paper
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Genome-wide Association Study Links APOEϵ4 and BACE1 Variants with Plasma Amyloid β Levels

genetics more details view paper
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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
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Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

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

genetics more details view paper
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Discovering patterns of pleiotropy in genome-wide association studies

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

genetics more details view paper
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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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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
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Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

genomics more details view paper
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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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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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

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

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De novo mutation in ancestral generations evolves haplotypes contributing to disease

genomics more details view paper
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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

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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

genetics more details view paper
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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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

bioinformatics more details view paper
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Efficient gene-environment interaction tests for large biobank-scale sequencing studies

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Analysis of putative cis-regulatory elements regulating blood pressure variation

genomics more details view paper
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

genomics more details view paper
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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

genetics more details view paper
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