Author: Jerome I. Rotter

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Preprints

Recovery of trait heritability from whole genome sequence data

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  • Site-wide: 657
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  • Site-wide: 4,427

An open resource of structural variation for medical and population genetics

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  • Site-wide: 708
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  • Site-wide: 8,560
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  • Site-wide: 12,569

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

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  • Site-wide: 1,037
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  • Site-wide: 2,077
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  • Site-wide: 4,074

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

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  • Site-wide: 3,657
  • In genetics: 150
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  • Site-wide: 38,989
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  • Site-wide: 79,986

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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  • Site-wide: 3,679
  • In genomics: 415
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  • Site-wide: 37,962

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

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  • Site-wide: 3,953
  • In genetics: 168
• Year to date:
  • Site-wide: 52,684
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  • Site-wide: 66,454

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

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  • Site-wide: 4,330
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  • Site-wide: 7,275
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 5,795
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  • Site-wide: 5,433
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  • Site-wide: 6,225

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

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  • Site-wide: 6,936
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  • Site-wide: 125,717
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  • Site-wide: 103,246

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,364
  • In genetic and genomic medicine: 24
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  • Site-wide: 21,347
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  • Site-wide: 17,429

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

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  • Site-wide: 8,334
  • In genetics: 391
• Year to date:
  • Site-wide: 85,043
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  • Site-wide: 81,682

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

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  • Site-wide: 8,600
  • In genetics: 405
• Year to date:
  • Site-wide: 31,123
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  • Site-wide: 26,145

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

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  • Site-wide: 9,354
  • In genetics: 447
• Year to date:
  • Site-wide: 79,904
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  • Site-wide: 81,700

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

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  • Site-wide: 9,826
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  • Site-wide: 61,842
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  • Site-wide: 40,345

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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  • Site-wide: 9,913
  • In genetics: 477
• Year to date:
  • Site-wide: 76,351
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  • Site-wide: 65,825

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

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  • Site-wide: 11,676
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• Year to date:
  • Site-wide: 85,440
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  • Site-wide: 100,123

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

• Downloaded 1,446 times
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  • Site-wide: 11,983
  • In bioinformatics: 1,471
• Year to date:
  • Site-wide: 1,812
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  • Site-wide: 2,874

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

• Downloaded 1,442 times
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  • Site-wide: 12,041
  • In genetics: 589
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  • Site-wide: 29,303
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  • Site-wide: 22,967

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

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  • Site-wide: 14,275
  • In genetics: 704
• Year to date:
  • Site-wide: 19,763
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  • Site-wide: 14,109

Genetic architecture of gene expression traits across diverse populations

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  • Site-wide: 15,663
  • In genomics: 1,616
• Year to date:
  • Site-wide: 92,727
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  • Site-wide: 98,209

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

• Downloaded 1,198 times
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  • Site-wide: 15,978
  • In genetics: 792
• Year to date:
  • Site-wide: 49,930
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  • Site-wide: 65,674

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

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  • Site-wide: 16,673
  • In genetics: 817
• Year to date:
  • Site-wide: 5,865
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  • Site-wide: 5,271

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

• Downloaded 1,083 times
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  • Site-wide: 18,544
  • In genetic and genomic medicine: 64
• Year to date:
  • Site-wide: 7,238
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  • Site-wide: 7,863

A genome-wide association study for nonalcoholic fatty liver disease identifies novel genetic loci and trait-relevant candidate genes in the Million Veteran Program.

• Downloaded 1,017 times
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  • Site-wide: 20,381
  • In genetic and genomic medicine: 69
• Year to date:
  • Site-wide: 1,028
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  • Site-wide: 3,284

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

• Downloaded 969 times
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  • Site-wide: 21,794
  • In genomics: 2,153
• Year to date:
  • Site-wide: 98,259
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  • Site-wide: 81,544

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 840 times
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  • Site-wide: 26,731
  • In genetics: 1,300
• Year to date:
  • Site-wide: 27,056
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  • Site-wide: 19,531

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

• Downloaded 839 times
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  • Site-wide: 26,786
  • In genetics: 1,302
• Year to date:
  • Site-wide: 93,665
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  • Site-wide: 99,890

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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  • Site-wide: 27,403
  • In genetics: 1,331
• Year to date:
  • Site-wide: 59,639
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  • Site-wide: 64,857

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

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  • Site-wide: 28,075
  • In genetic and genomic medicine: 89
• Year to date:
  • Site-wide: 25,482
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  • Site-wide: 19,103

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 794 times
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  • Site-wide: 28,939
  • In genetics: 1,404
• Year to date:
  • Site-wide: 13,179
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  • Site-wide: 8,900

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

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  • Site-wide: 31,271
  • In genomics: 2,798
• Year to date:
  • Site-wide: 92,614
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  • Site-wide: 103,017

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

• Downloaded 742 times
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  • Site-wide: 31,784
  • In genomics: 2,829
• Year to date:
  • Site-wide: 79,256
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  • Site-wide: 116,845

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

• Downloaded 713 times
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  • Site-wide: 33,565
  • In genetics: 1,633
• Year to date:
  • Site-wide: 119,846
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  • Site-wide: 104,695

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

• Downloaded 667 times
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  • Site-wide: 36,801
  • In genomics: 3,140
• Year to date:
  • Site-wide: 73,511
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  • Site-wide: 101,791

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

• Downloaded 617 times
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  • Site-wide: 40,669
  • In genetics: 1,941
• Year to date:
  • Site-wide: 4,690
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  • Site-wide: 13,181

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

• Downloaded 613 times
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  • Site-wide: 41,009
  • In genetics: 1,949
• Year to date:
  • Site-wide: 73,733
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  • Site-wide: 63,939

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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  • Site-wide: 41,525
  • In genetics: 1,976
• Year to date:
  • Site-wide: 108,324
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  • Site-wide: 81,694

Discovering patterns of pleiotropy in genome-wide association studies

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  • Site-wide: 43,973
  • In genetics: 2,068
• Year to date:
  • Site-wide: 113,088
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  • Site-wide: 93,161

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

• Downloaded 570 times
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  • Site-wide: 44,835
  • In genetics: 2,114
• Year to date:
  • Site-wide: 89,839
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  • Site-wide: 74,346

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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  • Site-wide: 45,490
  • In genetics: 2,143
• Year to date:
  • Site-wide: 113,620
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  • Site-wide: 125,689

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

• Downloaded 506 times
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  • Site-wide: 51,792
  • In genomics: 4,020
• Year to date:
  • Site-wide: 119,149
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  • Site-wide: 119,941

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

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  • Site-wide: 56,700
  • In hematology: 34
• Year to date:
  • Site-wide: 6,130
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  • Site-wide: 10,408

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

• Downloaded 438 times
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  • Site-wide: 60,555
  • In epidemiology: 2,614
• Year to date:
  • Site-wide: 110,550
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  • Site-wide: 99,044

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

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  • Site-wide: 60,740
  • In genetics: 2,831
• Year to date:
  • Site-wide: 73,827
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  • Site-wide: 72,897

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

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  • Site-wide: 65,192
  • In epidemiology: 2,779
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  • Site-wide: 3,637
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  • Site-wide: 938

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

• Downloaded 396 times
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  • Site-wide: 67,040
  • In genetics: 3,093
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  • Site-wide: 59,013
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  • Site-wide: 64,396

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

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  • Site-wide: 67,094
  • In genetics: 3,089
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  • Site-wide: 69,916
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  • Site-wide: 69,707

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

• Downloaded 368 times
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  • Site-wide: 71,751
  • In epidemiology: 3,010
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  • Site-wide: 85,101
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  • Site-wide: 64,265

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

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  • Site-wide: 72,481
  • In physiology: 545
• Year to date:
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  • Site-wide: 91,297

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

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  • Site-wide: 74,614
  • In genomics: 5,060
• Year to date:
  • Site-wide: 126,048
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  • Site-wide: 122,834

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

• Downloaded 323 times
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  • Site-wide: 80,116
  • In genomics: 5,258
• Year to date:
  • Site-wide: 112,753
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  • Site-wide: 105,977

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

• Downloaded 320 times
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  • Site-wide: 80,733
  • In genetic and genomic medicine: 283
• Year to date:
  • Site-wide: 22,307
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  • Site-wide: 18,361

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

• Downloaded 301 times
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  • Site-wide: 84,638
  • In epidemiology: 3,478
• Year to date:
  • Site-wide: 74,255
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  • Site-wide: 73,869

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

• Downloaded 292 times
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  • Site-wide: 86,359
  • In genetics: 3,919
• Year to date:
  • Site-wide: 46,720
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  • Site-wide: None

Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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  • Site-wide: 86,716
  • In epidemiology: 3,563
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  • Site-wide: 38,726
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  • Site-wide: 52,339

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

• Downloaded 268 times
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  • Site-wide: 91,651
  • In genetics: 4,136
• Year to date:
  • Site-wide: 121,590
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  • Site-wide: 105,958

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

• Downloaded 259 times
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  • Site-wide: 93,690
  • In genetics: 4,211
• Year to date:
  • Site-wide: 129,587
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  • Site-wide: 125,806

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

• Downloaded 210 times
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  • Site-wide: 104,515
  • In genomics: 6,111
• Year to date:
  • Site-wide: 95,502
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  • Site-wide: 69,827

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

• Downloaded 188 times
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  • Site-wide: 109,159
  • In genetic and genomic medicine: 474
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  • Site-wide: 104,595
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  • Site-wide: 69,945

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

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  • Site-wide: 110,264
  • In genetic and genomic medicine: 481
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  • Site-wide: 11,503
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  • Site-wide: 2,912

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

• Downloaded 178 times
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  • Site-wide: 111,282
  • In genetic and genomic medicine: 494
• Year to date:
  • Site-wide: 11,897
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  • Site-wide: 32,124

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

• Downloaded 171 times
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  • Site-wide: 112,774
  • In genetic and genomic medicine: 509
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  • Site-wide: 12,555
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  • Site-wide: 36,352

Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

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  • Site-wide: 114,815
  • In genetics: 4,972
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  • Site-wide: 115,089
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  • Site-wide: 113,165

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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  • Site-wide: 115,154
  • In genomics: 6,425
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  • Site-wide: 109,044
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  • Site-wide: 120,827

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

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  • Site-wide: 129,607
  • In genetic and genomic medicine: 633
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Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies

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  • Site-wide: 132,599
  • In bioinformatics: 10,379
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  • Site-wide: 61,166