Author: Jerome I. Rotter

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Preprints

An open resource of structural variation for medical and population genetics

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

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Deep-coverage whole genome sequences and blood lipids among 16,324 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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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

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

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

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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

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

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

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

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

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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

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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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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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

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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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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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

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

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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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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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Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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

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

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

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

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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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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

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

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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

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