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: 991
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  • Site-wide: 2,613
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  • Site-wide: 2,229

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

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  • Site-wide: 4,253
  • In genomics: 507
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  • Site-wide: 4,540
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  • Site-wide: 8,503

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

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  • Site-wide: 6,133
  • In genetics: 309
• Year to date:
  • Site-wide: 6,479
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  • Site-wide: 11,971

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

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  • Site-wide: 6,159
  • In genomics: 724
• Year to date:
  • Site-wide: 101,330
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  • Site-wide: 117,644

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,061
  • In genetic and genomic medicine: 17
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  • Site-wide: 55,622
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  • Site-wide: 14,364

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: 8,921
  • In genetics: 454
• Year to date:
  • Site-wide: 43,211
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  • Site-wide: 69,981

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: 14,199
  • In genetics: 739
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  • Site-wide: 25,889
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  • Site-wide: 2,614

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

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  • Site-wide: 14,402
  • In genetics: 748
• Year to date:
  • Site-wide: 28,609
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  • Site-wide: 34,141

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

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  • Site-wide: 16,148
  • In infectious diseases: 1,369
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  • Site-wide: 21,724
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  • Site-wide: 26,405

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

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  • Site-wide: 20,695
  • In bioinformatics: 2,542
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  • Site-wide: 72,806
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  • Site-wide: 60,748

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

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  • Site-wide: 21,315
  • In genetics: 1,069
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  • Site-wide: 5,968
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  • Site-wide: 12,494

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: 21,987
  • In hiv aids: 9
• Year to date:
  • Site-wide: 15,692
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  • Site-wide: 6,401

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: 24,518
  • In genetics: 1,234
• Year to date:
  • Site-wide: 50,622
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  • Site-wide: 101,036

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

• Downloaded 731 times
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  • Site-wide: 28,969
  • In genomics: 2,676
• Year to date:
  • Site-wide: 56,711
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  • Site-wide: 115,813

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

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  • Site-wide: 29,030
  • In genetic and genomic medicine: 73
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  • Site-wide: 20,426
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  • Site-wide: 16,855

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: 29,390
  • In genomics: 2,710
• Year to date:
  • Site-wide: 39,041
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  • Site-wide: 44,788

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 34,275
  • In genetics: 1,717
• Year to date:
  • Site-wide: 20,910
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  • Site-wide: 11,250

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

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  • Site-wide: 38,658
  • In genetics: 1,908
• Year to date:
  • Site-wide: 85,090
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  • Site-wide: 63,706

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

• Downloaded 462 times
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  • Site-wide: 51,524
  • In genetics: 2,496
• Year to date:
  • Site-wide: 657
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  • Site-wide: 1,388

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

• Downloaded 414 times
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  • Site-wide: 57,698
  • In genetics: 2,774
• Year to date:
  • Site-wide: 50,972
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  • Site-wide: 56,058

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

• Downloaded 392 times
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  • Site-wide: 60,990
  • In genetics: 2,919
• Year to date:
  • Site-wide: 57,019
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  • Site-wide: 103,759

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 363 times
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  • Site-wide: 65,502
  • In genetics: 3,117
• Year to date:
  • Site-wide: 53,115
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  • Site-wide: 119,044

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: 82,812
  • In genetics: 3,853
• Year to date:
  • Site-wide: 71,803
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  • Site-wide: 85,916

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

• Downloaded 260 times
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  • Site-wide: 84,787
  • In genetics: 3,939
• Year to date:
  • Site-wide: 14,612
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  • Site-wide: 24,828

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

• Downloaded 238 times
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  • Site-wide: 89,337
  • In hematology: 50
• Year to date:
  • Site-wide: 3,551
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  • Site-wide: 2,472

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

• Downloaded 235 times
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  • Site-wide: 89,955
  • In epidemiology: 3,608
• Year to date:
  • Site-wide: 43,243
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  • Site-wide: 28,903

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
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  • Site-wide: 92,793
  • In genetic and genomic medicine: 305
• Year to date:
  • Site-wide: 37,721
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  • Site-wide: 9,050

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

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  • Site-wide: 114,279
  • In genetics: 5,025
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  • Site-wide: 41,751
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  • Site-wide: 73,552

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: 119,290
  • In genetic and genomic medicine: 516
• Year to date:
  • Site-wide: 2,236
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  • Site-wide: None

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

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  • Site-wide: 120,355
  • In genetics: 5,192
• Year to date:
  • Site-wide: 43,614
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  • Site-wide: 10,137

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

• Downloaded 57 times
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  • Site-wide: 121,988
  • In genetic and genomic medicine: 537
• Year to date:
  • Site-wide: 100,608
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  • Site-wide: 45,142