Author: Adolfo Correa

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Preprints

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

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  • Site-wide: 1,037
  • In genomics: 94
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  • Site-wide: 2,141
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  • Site-wide: 4,418

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

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  • Site-wide: 4,344
  • In genomics: 488
• Year to date:
  • Site-wide: 7,523
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  • Site-wide: 9,298

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

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  • Site-wide: 5,814
  • In genetics: 273
• Year to date:
  • Site-wide: 5,595
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  • Site-wide: 6,833

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

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  • Site-wide: 6,955
  • In genomics: 769
• Year to date:
  • Site-wide: 126,782
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  • Site-wide: 109,751

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,390
  • In genetic and genomic medicine: 25
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  • Site-wide: 22,065
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  • Site-wide: 18,456

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: 9,938
  • In genetics: 477
• Year to date:
  • Site-wide: 78,414
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  • Site-wide: 70,314

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: 11,909
  • In genetics: 582
• Year to date:
  • Site-wide: 6,754
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  • Site-wide: 4,913

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

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  • Site-wide: 14,128
  • In genetics: 693
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  • Site-wide: 18,137
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  • Site-wide: 11,969

Proteomic Profiling in Biracial Cohorts Implicates DC-SIGN as a Mediator of Genetic Risk in COVID-19

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  • Site-wide: 15,861
  • In infectious diseases: 1,511
• Year to date:
  • Site-wide: 19,185
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  • Site-wide: 22,095

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

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  • Site-wide: 16,704
  • In genetics: 819
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  • Site-wide: 6,048
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  • Site-wide: 5,706

A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response

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  • Site-wide: 17,707
  • In hiv aids: 8
• Year to date:
  • Site-wide: 7,649
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  • Site-wide: 5,007

Genome-wide association study of asthma in individuals of African ancestry reveals novel asthma susceptibility loci

• Downloaded 948 times
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  • Site-wide: 22,539
  • In bioinformatics: 2,678
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  • Site-wide: 81,121
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  • Site-wide: 83,232

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

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  • Site-wide: 26,857
  • In genetics: 1,304
• Year to date:
  • Site-wide: 94,093
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  • Site-wide: 103,874

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

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  • Site-wide: 28,199
  • In genetic and genomic medicine: 89
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  • Site-wide: 26,220
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  • Site-wide: 20,746

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 794 times
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  • Site-wide: 29,033
  • In genetics: 1,407
• Year to date:
  • Site-wide: 13,624
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  • Site-wide: 9,753

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

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  • Site-wide: 31,922
  • In genomics: 2,838
• Year to date:
  • Site-wide: 80,190
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  • Site-wide: 116,757

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

• Downloaded 740 times
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  • Site-wide: 32,056
  • In genomics: 2,845
• Year to date:
  • Site-wide: 112,962
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  • Site-wide: 129,291

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: 40,771
  • In genetics: 1,942
• Year to date:
  • Site-wide: 4,854
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  • Site-wide: 14,388

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

• Downloaded 613 times
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  • Site-wide: 41,063
  • In genetics: 1,950
• Year to date:
  • Site-wide: 75,690
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  • Site-wide: 69,007

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

• Downloaded 467 times
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  • Site-wide: 56,862
  • In hematology: 34
• Year to date:
  • Site-wide: 6,336
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  • Site-wide: 11,206

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

• Downloaded 437 times
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  • Site-wide: 60,845
  • In genetics: 2,835
• Year to date:
  • Site-wide: 75,878
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  • Site-wide: 74,916

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

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  • Site-wide: 65,063
  • In genetics: 3,005
• Year to date:
  • Site-wide: 89,603
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  • Site-wide: 100,165

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

• Downloaded 408 times
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  • Site-wide: 65,308
  • In epidemiology: 2,783
• Year to date:
  • Site-wide: 3,755
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  • Site-wide: 1,012

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: 67,240
  • In genetics: 3,095
• Year to date:
  • Site-wide: 60,446
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  • Site-wide: 68,319

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: 80,943
  • In genetic and genomic medicine: 286
• Year to date:
  • Site-wide: 23,036
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  • Site-wide: 19,402

Biological Pathways and Gene Networks Link Inflammation and Vascular Remodeling to Both Heart Failure with Preserved and Reduced Ejection Fraction in Women across Ethnicities

• Downloaded 294 times
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  • Site-wide: 86,264
  • In genetics: 3,898
• Year to date:
  • Site-wide: 75,806
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  • Site-wide: 52,274

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

• Downloaded 292 times
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  • Site-wide: 86,717
  • In genetics: 3,923
• Year to date:
  • Site-wide: 47,920
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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

• Downloaded 291 times
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  • Site-wide: 86,831
  • In epidemiology: 3,564
• Year to date:
  • Site-wide: 39,613
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  • Site-wide: 55,887

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

• Downloaded 183 times
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  • Site-wide: 110,591
  • In genetic and genomic medicine: 483
• Year to date:
  • Site-wide: 11,852
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  • Site-wide: 3,173

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: 111,538
  • In genetic and genomic medicine: 495
• Year to date:
  • Site-wide: 12,274
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  • Site-wide: 34,917

Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

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  • Site-wide: 122,847
  • In genetics: 5,207
• Year to date:
  • Site-wide: 97,995
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  • Site-wide: 98,263

eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data

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  • Site-wide: 123,363
  • In genetics: 5,221
• Year to date:
  • Site-wide: 45,315
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  • Site-wide: 56,548

Genetic Underpinnings of Regional Adiposity Distribution in African Americans: Assessments from the Jackson Heart Study

• Downloaded 81 times
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  • Site-wide: 129,975
  • In genetic and genomic medicine: 638
• Year to date:
  • Site-wide: 85,379
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  • Site-wide: 67,192