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: 2,341
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  • Site-wide: 5,676

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

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  • Site-wide: 4,318
  • In genomics: 478
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  • Site-wide: 6,926
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  • Site-wide: 7,421

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

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  • Site-wide: 5,729
  • In genetics: 267
• Year to date:
  • Site-wide: 5,146
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  • Site-wide: 5,487

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

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  • Site-wide: 7,022
  • In genomics: 774
• Year to date:
  • Site-wide: 127,581
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  • Site-wide: 114,842

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,428
  • In genetic and genomic medicine: 25
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  • Site-wide: 19,805

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: 9,978
  • In genetics: 477
• Year to date:
  • Site-wide: 72,456
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  • Site-wide: 62,029

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: 12,030
  • In genetics: 585
• Year to date:
  • Site-wide: 7,505
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  • Site-wide: 6,279

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

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  • Site-wide: 14,257
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  • Site-wide: 15,375

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

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  • Site-wide: 15,985
  • In infectious diseases: 1,536
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  • Site-wide: 21,039
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  • Site-wide: 26,562

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

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  • Site-wide: 16,004
  • In genetics: 790
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  • Site-wide: 5,543
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  • Site-wide: 4,874

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: 16,545
  • In hiv aids: 7
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  • Site-wide: 6,288
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  • Site-wide: 3,828

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: 22,736
  • In bioinformatics: 2,690
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  • Site-wide: 85,509
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  • Site-wide: 87,821

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: 27,025
  • In genetics: 1,304
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  • Site-wide: 95,777
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  • Site-wide: 101,091

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

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  • Site-wide: 28,424
  • In genetic and genomic medicine: 91
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  • Site-wide: 28,450
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  • Site-wide: 25,000

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 29,245
  • In genetics: 1,418
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  • Site-wide: 14,968
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  • Site-wide: 12,380

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: 31,883
  • In genomics: 2,829
• Year to date:
  • Site-wide: 73,959
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  • Site-wide: 88,720

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

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  • Site-wide: 32,321
  • In genomics: 2,859
• Year to date:
  • Site-wide: 116,782
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  • Site-wide: 133,371

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: 41,049
  • In genetics: 1,947
• Year to date:
  • Site-wide: 5,375
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  • Site-wide: 17,873

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

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  • Site-wide: 41,423
  • In genetics: 1,957
• Year to date:
  • Site-wide: 79,453
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  • Site-wide: 73,210

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

• Downloaded 518 times
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  • Site-wide: 50,808
  • In hematology: 33
• Year to date:
  • Site-wide: 5,520
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  • Site-wide: 7,004

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

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  • Site-wide: 58,225
  • In epidemiology: 2,517
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  • Site-wide: 3,489
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  • Site-wide: 1,106

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

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  • Site-wide: 59,807
  • In genetics: 2,775
• Year to date:
  • Site-wide: 62,447
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  • Site-wide: 48,021

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

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  • Site-wide: 65,515
  • In genetics: 3,019
• Year to date:
  • Site-wide: 92,692
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  • Site-wide: 111,403

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 398 times
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  • Site-wide: 67,485
  • In genetics: 3,101
• Year to date:
  • Site-wide: 60,642
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  • Site-wide: 67,599

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 337 times
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  • Site-wide: 78,207
  • In genetic and genomic medicine: 275
• Year to date:
  • Site-wide: 21,269
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  • Site-wide: 16,985

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

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  • Site-wide: 86,587
  • In genetics: 3,923
• Year to date:
  • Site-wide: 78,453
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  • Site-wide: 58,629

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

• Downloaded 293 times
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  • Site-wide: 87,102
  • In epidemiology: 3,573
• Year to date:
  • Site-wide: 41,556
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  • Site-wide: 57,120

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

• Downloaded 292 times
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  • Site-wide: 87,331
  • In genetics: 3,941
• Year to date:
  • Site-wide: 51,013
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  • Site-wide: None

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

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  • Site-wide: 108,132
  • In genetic and genomic medicine: 469
• Year to date:
  • Site-wide: 11,732
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  • Site-wide: 3,656

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

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  • Site-wide: 112,370
  • In genetic and genomic medicine: 504
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  • Site-wide: 13,510
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  • Site-wide: 41,034

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

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  • Site-wide: 123,241
  • In genetics: 5,201
• Year to date:
  • Site-wide: 93,611
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  • Site-wide: 90,561

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

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  • In genetics: 5,245
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  • Site-wide: 48,157
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  • Site-wide: 63,854

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

• Downloaded 81 times
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  • Site-wide: 130,964
  • In genetic and genomic medicine: 648
• Year to date:
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