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Author: Jerome Rotter

Rankings

  • All-time downloads: 102,436 (rank: 1,639 )
  • Categories:
    • bioinformatics: 2,568 (rank: 6,701 (tie) )
    • epidemiology: 2,769 (rank: 5,524 (tie) )
    • genetic and genomic medicine: 8,325 (rank: 135 )
    • genetics: 51,999 (rank: 81 )
    • genomics: 35,507 (rank: 352 )
    • hematology: 840 (rank: 498 (tie) )
    • physiology: 428 (rank: 5,618 (tie) )

Downloads per author, site-wide

Preprints

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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    • Site-wide: 1,286
    • In genomics: 96
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    • Site-wide: 4,411
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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
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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

genomics more details view paper
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    • Site-wide: 4,769
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    • Site-wide: 160,058

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

genetics more details view paper
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    • Site-wide: 4,804
    • In genetics: 181
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    • Site-wide: 42,864
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

genetics more details view paper
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Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

bioinformatics more details view paper
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The Polygenic and Monogenic Basis of Blood Traits and Diseases

genetic and genomic medicine more details view paper
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    • Site-wide: 8,955
    • In genetic and genomic medicine: 44
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

genomics more details view paper
  • Downloaded 2,128 times
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    • Site-wide: 9,066
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Identification of type 2 diabetes loci in 433,540 East Asian individuals

genetics more details view paper
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    • Site-wide: 10,219
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

genetics more details view paper
  • Downloaded 1,907 times
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    • Site-wide: 10,693
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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

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    • Site-wide: 11,450
    • In genetics: 482
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    • Site-wide: 90,249
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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

genetic and genomic medicine more details view paper
  • Downloaded 1,784 times
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
  • Downloaded 1,773 times
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    • Site-wide: 11,925
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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

genetics more details view paper
  • Downloaded 1,735 times
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    • Site-wide: 12,305
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    • Site-wide: 121,744

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

genetics more details view paper
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    • Site-wide: 13,002
    • In genetics: 564
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Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

genetics more details view paper
  • Downloaded 1,590 times
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    • Site-wide: 13,992
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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

genetics more details view paper
  • Downloaded 1,557 times
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    • Site-wide: 14,497
    • In genetics: 633
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Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

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  • Downloaded 1,546 times
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    • Site-wide: 14,649
    • In genetics: 641
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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

genetics more details view paper
  • Downloaded 1,297 times
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    • Site-wide: 19,231
    • In genetics: 859
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    • Site-wide: 81,381
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Genetic architecture of gene expression traits across diverse populations

genomics more details view paper
  • Downloaded 1,297 times
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    • In genomics: 1,797
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
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    • Site-wide: 21,961
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    • Site-wide: 13,374
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Collaborative Cohort of Cohorts for COVID-19 Research (C4R) Study: Study Design

epidemiology more details view paper
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    • Site-wide: 25,035
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    • Site-wide: 5,926

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
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    • Site-wide: 25,433
    • In genetics: 1,118
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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
  • Downloaded 1,011 times
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    • Site-wide: 28,037
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 972 times
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    • Site-wide: 29,677
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    • Site-wide: 42,130
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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 887 times
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    • Site-wide: 34,010
    • In genetics: 1,490
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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 880 times
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    • Site-wide: 34,346
    • In genetics: 1,501
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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

genetics more details view paper
  • Downloaded 866 times
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    • Site-wide: 35,114
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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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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

genomics more details view paper
  • Downloaded 837 times
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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

genomics more details view paper
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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
  • Downloaded 758 times
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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 699 times
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

genetics more details view paper
  • Downloaded 666 times
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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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

genetics more details view paper
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A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

genetics 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

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

genetic and genomic medicine 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
  • Downloaded 493 times
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Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

genetics more details view paper
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Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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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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    • Site-wide: 79,440
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    • Site-wide: 38,576
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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.

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

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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

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

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

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    • Site-wide: 105,193
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GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

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

genetics more details view paper
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population

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

genetic and genomic medicine more details view paper
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Protein prediction for trait mapping in diverse populations

genomics more details view paper
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A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

genetic and genomic medicine more details view paper
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Genetic and environmental correlations between complex phenotypes differ by race/ethnicity and sex

genetic and genomic medicine 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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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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Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study

genetic and genomic medicine more details view paper
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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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