Author: Myriam Fornage

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Preprints

Recovery of trait heritability from whole genome sequence data

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  • Site-wide: 792
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  • Site-wide: 2,601
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  • Site-wide: 5,846

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

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  • Site-wide: 1,443
  • In genomics: 92
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  • Site-wide: 12,466
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  • Site-wide: 18,430

The genetic architecture of the human cerebral cortex

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  • Site-wide: 1,582
  • In genetics: 35
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  • Site-wide: 24,317
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  • Site-wide: 29,667

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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  • Site-wide: 3,226
  • In genetics: 128
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  • Site-wide: 199
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  • Site-wide: 906

The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

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  • Site-wide: 5,344
  • In genetics: 178
• Year to date:
  • Site-wide: 60,976
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  • Site-wide: 54,954

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

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  • Site-wide: 5,445
  • In genomics: 498
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  • Site-wide: 30,640
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  • Site-wide: 45,590

Large-scale association analyses identify host factors influencing human gut microbiome composition

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  • Site-wide: 6,909
  • In genetics: 258
• Year to date:
  • Site-wide: 25,965
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  • Site-wide: 46,998

Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

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  • Site-wide: 9,449
  • In genetics: 367
• Year to date:
  • Site-wide: 30,671
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  • Site-wide: 59,546

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

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  • Site-wide: 9,624
  • In genetic and genomic medicine: 50
• Year to date:
  • Site-wide: 5,942
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  • Site-wide: 6,163

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

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  • Site-wide: 13,190
  • In genetics: 498
• Year to date:
  • Site-wide: 125,439
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  • Site-wide: 117,112

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

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  • Site-wide: 13,405
  • In genetics: 524
• Year to date:
  • Site-wide: 71,149
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  • Site-wide: 46,627

Clonal hematopoiesis is driven by aberrant activation of TCL1A

• Downloaded 1,750 times
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  • Site-wide: 14,466
  • In genetics: 913
• Year to date:
  • Site-wide: 1,455
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  • Site-wide: 1,985

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

• Downloaded 1,638 times
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  • Site-wide: 15,908
  • In genetics: 655
• Year to date:
  • Site-wide: 56,416
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  • Site-wide: 71,808

Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption

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  • Site-wide: 17,200
  • In genomics: 1,539
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  • Site-wide: 85,198
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  • Site-wide: 52,161

Clonal hematopoiesis is associated with protection from Alzheimer's disease

• Downloaded 1,521 times
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  • Site-wide: 17,916
  • In hematology: 24
• Year to date:
  • Site-wide: 1,832
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  • Site-wide: 3,031

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

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  • Site-wide: 18,054
  • In genetics: 781
• Year to date:
  • Site-wide: 28,146
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  • Site-wide: 23,707

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

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  • Site-wide: 26,998
  • In genomics: 2,592
• Year to date:
  • Site-wide: 9,750
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  • Site-wide: 37,750

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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  • Site-wide: 32,424
  • In genetics: 1,379
• Year to date:
  • Site-wide: 41,563
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  • Site-wide: 35,580

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

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  • Site-wide: 33,780
  • In genetics: 1,428
• Year to date:
  • Site-wide: 65,847
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  • Site-wide: 26,339

Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs

• Downloaded 1,001 times
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  • Site-wide: 33,976
  • In genomics: 2,723
• Year to date:
  • Site-wide: 89,670
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  • Site-wide: 54,813

Planar cell polarity pathway and development of the human visual cortex

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  • Site-wide: 36,625
  • In neuroscience: 4,615
• Year to date:
  • Site-wide: 76,854
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  • Site-wide: 51,505

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

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  • Site-wide: 37,427
  • In hematology: 35
• Year to date:
  • Site-wide: 63,855
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  • Site-wide: 44,868

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 916 times
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  • Site-wide: 38,791
  • In genetics: 1,539
• Year to date:
  • Site-wide: 137,048
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  • Site-wide: 119,602

Partial derivatives meta-analysis: pooled analyses when individual participant data cannot be shared

• Downloaded 841 times
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  • Site-wide: 44,021
  • In bioinformatics: 4,362
• Year to date:
  • Site-wide: 114,467
• Since beginning of last month:
  • Site-wide: 71,970

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

• Downloaded 788 times
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  • Site-wide: 48,444
  • In genetic and genomic medicine: 282
• Year to date:
  • Site-wide: 20,002
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  • Site-wide: 29,148

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 729 times
• Download rankings, all-time:
  • Site-wide: 54,102
  • In genomics: 3,773
• Year to date:
  • Site-wide: 164,500
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  • Site-wide: 185,401

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

• Downloaded 695 times
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  • Site-wide: 57,845
  • In genetic and genomic medicine: 353
• Year to date:
  • Site-wide: 22,333
• Since beginning of last month:
  • Site-wide: 18,651

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

• Downloaded 681 times
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  • Site-wide: 59,464
  • In genomics: 4,597
• Year to date:
  • Site-wide: 24,779
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  • Site-wide: 71,624

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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  • Site-wide: 59,636
  • In genetics: 2,313
• Year to date:
  • Site-wide: 149,767
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  • Site-wide: 178,414

Genetic variants for head size share genes and pathways with cancer

• Downloaded 676 times
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  • Site-wide: 60,197
  • In genomics: 4,449
• Year to date:
  • Site-wide: 49,222
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  • Site-wide: 54,215

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

• Downloaded 616 times
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  • Site-wide: 67,988
  • In genetics: 2,695
• Year to date:
  • Site-wide: 112,647
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  • Site-wide: 84,352

Methylome-Wide Association Study Of Central Adiposity Implicates Genes Involved In Immune And Endocrine Systems

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  • Site-wide: 69,762
  • In genomics: 4,549
• Year to date:
  • Site-wide: 173,256
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  • Site-wide: 158,006

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 598 times
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  • Site-wide: 70,652
  • In genomics: 4,622
• Year to date:
  • Site-wide: 147,050
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  • Site-wide: 132,737

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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  • Site-wide: 72,174
  • In genetics: 3,422
• Year to date:
  • Site-wide: 24,116
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  • Site-wide: 23,059

Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities

• Downloaded 539 times
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  • Site-wide: 80,214
  • In neuroscience: 10,841
• Year to date:
  • Site-wide: 169,042
• Since beginning of last month:
  • Site-wide: 173,105

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

• Downloaded 523 times
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  • Site-wide: 83,151
  • In epidemiology: 3,498
• Year to date:
  • Site-wide: 142,939
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  • Site-wide: 142,273

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

• Downloaded 475 times
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  • Site-wide: 92,898
  • In epidemiology: 3,923
• Year to date:
  • Site-wide: 98,340
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  • Site-wide: 96,402

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

• Downloaded 423 times
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  • Site-wide: 104,784
  • In genetic and genomic medicine: 721
• Year to date:
  • Site-wide: 23,343
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  • Site-wide: 34,302

Polygenic Risk Scores for Alzheimer's Disease and Mild Cognitive Impairment in Hispanics/Latinos in the U.S: The Study of Latinos - Investigation ofNeurocognitive Aging

• Downloaded 416 times
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  • Site-wide: 106,486
  • In genetic and genomic medicine: 686
• Year to date:
  • Site-wide: 51,180
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  • Site-wide: 55,336

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

• Downloaded 373 times
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  • Site-wide: 117,494
  • In genetic and genomic medicine: 941
• Year to date:
  • Site-wide: 12,770
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  • Site-wide: 12,179

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

• Downloaded 354 times
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  • Site-wide: 122,684
  • In epidemiology: 4,841
• Year to date:
  • Site-wide: 188,673
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  • Site-wide: 183,494

Differential Host Gene Signatures in Response to Mycobacterium tuberculosis Infection

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  • Site-wide: 131,873
  • In microbiology: 9,200
• Year to date:
  • Site-wide: 98,138
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  • Site-wide: 112,521

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences

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  • Site-wide: 139,144
  • In genomics: 7,147
• Year to date:
  • Site-wide: 135,736
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  • Site-wide: 120,990

Genetic and environmental correlations between complex phenotypes differ by race/ethnicity and sex

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  • Site-wide: 141,064
  • In genetic and genomic medicine: 920
• Year to date:
  • Site-wide: 54,055
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  • Site-wide: 49,654

Blood metabolites predicting Mild Cognitive Impairment in the Study of Latinos-Investigation of Neurocognitive Aging (HCHS/SOL)

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  • Site-wide: 165,065
  • In epidemiology: 6,534
• Year to date:
  • Site-wide: 111,133
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  • Site-wide: 124,699

An integrative analysis of clinical and epigenetic biomarkers of mortality

• Downloaded 168 times
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  • Site-wide: 174,364
  • In genetic and genomic medicine: 1,205
• Year to date:
  • Site-wide: 25,055
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  • Site-wide: 54,065

Plasma metabolites associated with cognitive function across race/ethnicities affirming the importance of healthy nutrition

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  • Site-wide: 186,491
  • In epidemiology: None
• Year to date:
  • Site-wide: 49,409
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  • Site-wide: 61,094