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Author: Jerome I. Rotter

Rankings

  • All-time downloads: 96,375 (rank: 1,412 )
  • Categories:
    • bioinformatics: 1,892 (rank: 8,370 (tie) )
    • epidemiology: 2,194 (rank: 5,572 )
    • genetic and genomic medicine: 7,688 (rank: 115 )
    • genetics: 49,411 (rank: 86 )
    • genomics: 34,149 (rank: 316 )
    • hematology: 657 (rank: 413 (tie) )
    • physiology: 384 (rank: 4,804 (tie) )

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Preprints

Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes

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Recovery of trait heritability from whole genome sequence data

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An open resource of structural variation for medical and population genetics

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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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Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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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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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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Identification of type 2 diabetes loci in 433,540 East Asian individuals

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

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Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

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

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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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A genome-wide association study of chronic ALT-based non-alcoholic fatty liver disease in the Million Veteran Program with histological and radiological validation.

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Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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

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

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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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Genetic architecture of gene expression traits across diverse populations

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Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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Genome-wide Meta-analysis of 158,000 Individuals of European Ancestry Identifies Three Loci Associated with Chronic Back Pain

genomics more details view paper
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics 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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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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Collaborative Cohort of Cohorts for COVID-19 Research (C4R) Study: Study Design

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Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

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

hematology more details view paper
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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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

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A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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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

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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

genomics more details view paper
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

genetics more details view paper
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

genetics more details view paper
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Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

epidemiology more details view paper
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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

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Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

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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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Multi-ethnic genome-wide association study of decomposed cardioelectric phenotypes illustrates strategies to identify and characterize evidence of shared genetic effects for complex traits

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Adiposity-Independent Effects of Aging on Insulin Sensitivity and Clearance in Humans and Mice

physiology more details view paper
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Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

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Epigenome-wide association analysis of daytime sleepiness in the Multi-Ethnic Study of Atherosclerosis reveals African-American specific associations

genomics more details view paper
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Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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

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

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GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

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

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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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Transcriptional survey of peripheral blood links lower oxygen saturation during sleep with reduced expressions of CD1D and RAB20 that is reversed by CPAP therapy

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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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Monogenic and Polygenic Contributions to QTc Prolongation in the Population

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Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

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A long noncoding RNA, LOC157273, is the effector transcript at the chromosome 8p23.1-PPP1R3B metabolic traits and type 2 diabetes risk locus

genomics more details view paper
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Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

genetics more details view paper
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Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study

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Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies

bioinformatics more details view paper
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