Author: Jerome I. Rotter

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Preprints

Recovery of trait heritability from whole genome sequence data

• Downloaded 10,929 times
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  • Site-wide: 590
  • In genetics: 17
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  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 5,292

An open resource of structural variation for medical and population genetics

• Downloaded 10,797 times
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  • Site-wide: 605
  • In genomics: 49
• Year to date:
  • Site-wide: 2,976
• Since beginning of last month:
  • Site-wide: 5,064

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

• Downloaded 7,638 times
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  • Site-wide: 961
  • In genomics: 93
• Year to date:
  • Site-wide: 1,458
• Since beginning of last month:
  • Site-wide: 1,519

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

• Downloaded 3,210 times
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  • Site-wide: 3,236
  • In genetics: 144
• Year to date:
  • Site-wide: 13,196
• Since beginning of last month:
  • Site-wide: 31,900

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

• Downloaded 3,206 times
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  • Site-wide: 3,244
  • In genomics: 387
• Year to date:
  • Site-wide: 62,048
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  • Site-wide: 70,511

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

• Downloaded 3,027 times
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  • Site-wide: 3,510
  • In genetics: 165
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 56,036

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

• Downloaded 2,578 times
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  • Site-wide: 4,384
  • In genomics: 529
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  • Site-wide: 21,067

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

• Downloaded 2,091 times
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  • Site-wide: 5,997
  • In genetics: 304
• Year to date:
  • Site-wide: 3,561
• Since beginning of last month:
  • Site-wide: 8,259

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

• Downloaded 2,083 times
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  • Site-wide: 6,032
  • In genomics: 716
• Year to date:
  • Site-wide: 55,857
• Since beginning of last month:
  • Site-wide: 97,280

The Polygenic and Monogenic Basis of Blood Traits and Diseases

• Downloaded 1,900 times
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  • Site-wide: 6,910
  • In genetic and genomic medicine: 17
• Year to date:
  • Site-wide: 28,611
• Since beginning of last month:
  • Site-wide: 9,932

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

• Downloaded 1,833 times
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  • Site-wide: 7,287
  • In genetics: 364
• Year to date:
  • Site-wide: 24,617
• Since beginning of last month:
  • Site-wide: 75,121

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

• Downloaded 1,721 times
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  • Site-wide: 7,975
  • In genetics: 405
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 50,733

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

• Downloaded 1,693 times
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  • Site-wide: 8,190
  • In genetics: 420
• Year to date:
  • Site-wide: 48,125
• Since beginning of last month:
  • Site-wide: 40,690

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

• Downloaded 1,629 times
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  • Site-wide: 8,699
  • In genetics: 449
• Year to date:
  • Site-wide: 21,623
• Since beginning of last month:
  • Site-wide: 47,912

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

• Downloaded 1,627 times
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  • Site-wide: 8,711
  • In genetics: 450
• Year to date:
  • Site-wide: 35,389
• Since beginning of last month:
  • Site-wide: 26,376

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

• Downloaded 1,455 times
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  • Site-wide: 10,284
  • In genetics: 525
• Year to date:
  • Site-wide: 18,518
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  • Site-wide: 49,640

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

• Downloaded 1,369 times
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  • Site-wide: 11,330
  • In genetics: 592
• Year to date:
  • Site-wide: 15,380
• Since beginning of last month:
  • Site-wide: 34,312

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

• Downloaded 1,183 times
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  • Site-wide: 14,077
  • In genetics: 735
• Year to date:
  • Site-wide: 14,138
• Since beginning of last month:
  • Site-wide: 24,232

Genetic architecture of gene expression traits across diverse populations

• Downloaded 1,183 times
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  • Site-wide: 14,065
  • In genomics: 1,531
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 95,534

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

• Downloaded 1,164 times
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  • Site-wide: 14,413
  • In genetics: 757
• Year to date:
  • Site-wide: 11,517
• Since beginning of last month:
  • Site-wide: 56,018

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

• Downloaded 945 times
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  • Site-wide: 19,678
  • In genomics: 2,034
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 103,197

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

• Downloaded 853 times
• Download rankings, all-time:
  • Site-wide: 22,839
  • In genetic and genomic medicine: 61
• Year to date:
  • Site-wide: 5,388
• Since beginning of last month:
  • Site-wide: 3,973

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

• Downloaded 840 times
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  • Site-wide: 23,361
  • In genetics: 1,188
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 20,461

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

• Downloaded 815 times
• Download rankings, all-time:
  • Site-wide: 24,388
  • In genetics: 1,233
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 93,867

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 785 times
• Download rankings, all-time:
  • Site-wide: 25,659
  • In genetics: 1,308
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 90,068

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 764 times
• Download rankings, all-time:
  • Site-wide: 26,562
  • In genetics: 1,354
• Year to date:
  • Site-wide: 10,384
• Since beginning of last month:
  • Site-wide: 16,779

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

• Downloaded 730 times
• Download rankings, all-time:
  • Site-wide: 28,409
  • In genetic and genomic medicine: 72
• Year to date:
  • Site-wide: 11,213
• Since beginning of last month:
  • Site-wide: 11,664

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

• Downloaded 726 times
• Download rankings, all-time:
  • Site-wide: 28,644
  • In genomics: 2,659
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 109,653

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

• Downloaded 723 times
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  • Site-wide: 28,779
  • In genomics: 2,675
• Year to date:
  • Site-wide: 18,570
• Since beginning of last month:
  • Site-wide: 30,801

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 695 times
• Download rankings, all-time:
  • Site-wide: 30,387
  • In genetics: 1,541
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 100,806

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 645 times
• Download rankings, all-time:
  • Site-wide: 33,569
  • In genetics: 1,694
• Year to date:
  • Site-wide: 10,617
• Since beginning of last month:
  • Site-wide: 7,781

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 626 times
• Download rankings, all-time:
  • Site-wide: 34,910
  • In genomics: 3,068
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 83,485

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

• Downloaded 591 times
• Download rankings, all-time:
  • Site-wide: 37,501
  • In genetics: 1,870
• Year to date:
  • Site-wide: 66,548
• Since beginning of last month:
  • Site-wide: 94,093

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

• Downloaded 587 times
• Download rankings, all-time:
  • Site-wide: 37,895
  • In genetics: 1,877
• Year to date:
  • Site-wide: 41,946
• Since beginning of last month:
  • Site-wide: 46,470

Discovering patterns of pleiotropy in genome-wide association studies

• Downloaded 561 times
• Download rankings, all-time:
  • Site-wide: 40,069
  • In genetics: 1,978
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 113,322

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

• Downloaded 552 times
• Download rankings, all-time:
  • Site-wide: 40,887
  • In genetics: 2,020
• Year to date:
  • Site-wide: 52,496
• Since beginning of last month:
  • Site-wide: 59,892

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

• Downloaded 548 times
• Download rankings, all-time:
  • Site-wide: 41,241
  • In genetics: 2,041
• Year to date:
  • Site-wide: 61,961
• Since beginning of last month:
  • Site-wide: 76,800

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 491 times
• Download rankings, all-time:
  • Site-wide: 46,968
  • In genomics: 3,791
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 111,099

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

• Downloaded 462 times
• Download rankings, all-time:
  • Site-wide: 50,404
  • In genetics: 2,463
• Year to date:
  • Site-wide: 357
• Since beginning of last month:
  • Site-wide: 952

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 445 times
• Download rankings, all-time:
  • Site-wide: 52,385
  • In genetic and genomic medicine: 139
• Year to date:
  • Site-wide: 121
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 426 times
• Download rankings, all-time:
  • Site-wide: 54,949
  • In epidemiology: 2,299
• Year to date:
  • Site-wide: 42,586
• Since beginning of last month:
  • Site-wide: 80,065

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

• Downloaded 400 times
• Download rankings, all-time:
  • Site-wide: 58,525
  • In genetics: 2,833
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 72,457

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

• Downloaded 357 times
• Download rankings, all-time:
  • Site-wide: 65,299
  • In genetics: 3,116
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 36,140

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 355 times
• Download rankings, all-time:
  • Site-wide: 65,600
  • In genetics: 3,137
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 110,417

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 345 times
• Download rankings, all-time:
  • Site-wide: 67,208
  • In epidemiology: 2,735
• Year to date:
  • Site-wide: 57,804
• Since beginning of last month:
  • Site-wide: 89,476

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

• Downloaded 341 times
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  • Site-wide: 67,934
  • In genomics: 4,797
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 87,967

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

• Downloaded 338 times
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  • Site-wide: 68,451
  • In physiology: 530
• Year to date:
  • Site-wide: 23,916
• Since beginning of last month:
  • Site-wide: 60,568

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

• Downloaded 304 times
• Download rankings, all-time:
  • Site-wide: 74,442
  • In genomics: 5,046
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 104,698

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

• Downloaded 277 times
• Download rankings, all-time:
  • Site-wide: 79,683
  • In epidemiology: 3,201
• Year to date:
  • Site-wide: 30,977
• Since beginning of last month:
  • Site-wide: 82,670

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

• Downloaded 254 times
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  • Site-wide: 84,536
  • In genetics: 3,938
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 103,289

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

• Downloaded 254 times
• Download rankings, all-time:
  • Site-wide: 84,502
  • In genetics: 3,937
• Year to date:
  • Site-wide: 42,442
• Since beginning of last month:
  • Site-wide: 96,481

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

• Downloaded 238 times
• Download rankings, all-time:
  • Site-wide: 87,895
  • In hematology: 50
• Year to date:
  • Site-wide: 1,964
• Since beginning of last month:
  • Site-wide: 1,688

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

• Downloaded 225 times
• Download rankings, all-time:
  • Site-wide: 90,535
  • In genetics: 4,208
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 36,393

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 221 times
• Download rankings, all-time:
  • Site-wide: 91,341
  • In genetic and genomic medicine: 303
• Year to date:
  • Site-wide: 20,347
• Since beginning of last month:
  • Site-wide: 6,212

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

• Downloaded 209 times
• Download rankings, all-time:
  • Site-wide: 93,798
  • In epidemiology: 3,747
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 62,858

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

• Downloaded 183 times
• Download rankings, all-time:
  • Site-wide: 99,251
  • In genomics: 5,897
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 89,590

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 171 times
• Download rankings, all-time:
  • Site-wide: 101,603
  • In genetic and genomic medicine: 382
• Year to date:
  • Site-wide: 66,694
• Since beginning of last month:
  • Site-wide: 62,312

Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

• Downloaded 152 times
• Download rankings, all-time:
  • Site-wide: 105,290
  • In genetics: 4,751
• Year to date:
  • Site-wide: 33,823
• Since beginning of last month:
  • Site-wide: 102,922

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

• Downloaded 142 times
• Download rankings, all-time:
  • Site-wide: 107,059
  • In genomics: 6,154
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 99,597

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

• Downloaded 80 times
• Download rankings, all-time:
  • Site-wide: 117,529
  • In genetic and genomic medicine: 511
• Year to date:
  • Site-wide: 1,245
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  • Site-wide: None

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

• Downloaded 33 times
• Download rankings, all-time:
  • Site-wide: 122,119
  • In genetic and genomic medicine: 538
• Year to date:
  • Site-wide: 4,029
• Since beginning of last month:
  • Site-wide: None