Author: Adolfo Correa

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Preprints

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

• Downloaded 8,465 times
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  • Site-wide: 1,202
  • In genomics: 97
• Year to date:
  • Site-wide: 3,936
• Since beginning of last month:
  • Site-wide: 57,857

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

• Downloaded 3,094 times
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  • Site-wide: 4,719
  • In genomics: 488
• Year to date:
  • Site-wide: 10,255
• Since beginning of last month:
  • Site-wide: 88,996

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

• Downloaded 2,836 times
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  • Site-wide: 5,340
  • In genetics: 222
• Year to date:
  • Site-wide: 4,788
• Since beginning of last month:
  • Site-wide: 38,959

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

• Downloaded 2,108 times
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  • Site-wide: 8,245
  • In genomics: 852
• Year to date:
  • Site-wide: 144,327
• Since beginning of last month:
  • Site-wide: None

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 8,334
  • In genetic and genomic medicine: 35
• Year to date:
  • Site-wide: 33,820
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  • Site-wide: 68,183

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

• Downloaded 1,978 times
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  • Site-wide: 9,066
  • In genetics: 386
• Year to date:
  • Site-wide: 4,659
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  • Site-wide: 1,917

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

• Downloaded 1,690 times
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  • Site-wide: 11,382
  • In genetics: 505
• Year to date:
  • Site-wide: 92,641
• Since beginning of last month:
  • Site-wide: 79,989

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

• Downloaded 1,578 times
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  • Site-wide: 12,594
  • In hiv aids: 7
• Year to date:
  • Site-wide: 5,549
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  • Site-wide: 24,310

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

• Downloaded 1,443 times
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  • Site-wide: 14,420
  • In genetics: 657
• Year to date:
  • Site-wide: 7,515
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  • Site-wide: 124,932

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

• Downloaded 1,430 times
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  • Site-wide: 14,627
  • In genetics: 668
• Year to date:
  • Site-wide: 23,491
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  • Site-wide: 51,204

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

• Downloaded 1,359 times
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  • Site-wide: 15,804
  • In infectious diseases: 1,734
• Year to date:
  • Site-wide: 21,386
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  • Site-wide: 6,724

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

• Downloaded 1,138 times
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  • Site-wide: 20,578
  • In genetics: 943
• Year to date:
  • Site-wide: 9,021
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  • Site-wide: 6,001

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

• Downloaded 1,017 times
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  • Site-wide: 24,222
  • In bioinformatics: 2,761
• Year to date:
  • Site-wide: 70,920
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  • Site-wide: 29,489

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

• Downloaded 924 times
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  • Site-wide: 27,878
  • In genetic and genomic medicine: 111
• Year to date:
  • Site-wide: 31,064
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  • Site-wide: 43,737

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

• Downloaded 858 times
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  • Site-wide: 30,945
  • In genetics: 1,420
• Year to date:
  • Site-wide: 125,838
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  • Site-wide: 114,212

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

• Downloaded 848 times
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  • Site-wide: 31,461
  • In genetics: 1,447
• Year to date:
  • Site-wide: 7,471
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  • Site-wide: 4,474

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

• Downloaded 799 times
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  • Site-wide: 34,147
  • In genomics: 2,910
• Year to date:
  • Site-wide: 79,007
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  • Site-wide: 38,986

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

• Downloaded 757 times
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  • Site-wide: 36,855
  • In epidemiology: 1,873
• Year to date:
  • Site-wide: 5,047
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  • Site-wide: 81,769

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

• Downloaded 745 times
• Download rankings, all-time:
  • Site-wide: 37,712
  • In genomics: 3,118
• Year to date:
  • Site-wide: 150,907
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 698 times
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  • Site-wide: 41,185
  • In hematology: 34
• Year to date:
  • Site-wide: 8,773
• Since beginning of last month:
  • Site-wide: 43,311

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

• Downloaded 651 times
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  • Site-wide: 45,078
  • In genetics: 2,017
• Year to date:
  • Site-wide: 93,603
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  • Site-wide: 35,853

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

• Downloaded 499 times
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  • Site-wide: 62,408
  • In genetics: 2,758
• Year to date:
  • Site-wide: 23,513
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  • Site-wide: 44,323

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

• Downloaded 485 times
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  • Site-wide: 64,432
  • In genetics: 2,841
• Year to date:
  • Site-wide: 84,186
• Since beginning of last month:
  • Site-wide: 114,086

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 460 times
• Download rankings, all-time:
  • Site-wide: 68,185
  • In genetic and genomic medicine: 281
• Year to date:
  • Site-wide: 24,960
• Since beginning of last month:
  • Site-wide: 41,991

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

• Downloaded 459 times
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  • Site-wide: 68,447
  • In genetics: 3,011
• Year to date:
  • Site-wide: 88,812
• Since beginning of last month:
  • Site-wide: 30,268

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 412 times
• Download rankings, all-time:
  • Site-wide: 76,338
  • In genetics: 3,328
• Year to date:
  • Site-wide: 107,097
• Since beginning of last month:
  • Site-wide: 104,137

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 336 times
• Download rankings, all-time:
  • Site-wide: 91,275
  • In genetics: 3,950
• Year to date:
  • Site-wide: 89,782
• Since beginning of last month:
  • Site-wide: 79,168

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

• Downloaded 334 times
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  • Site-wide: 91,832
  • In epidemiology: 3,876
• Year to date:
  • Site-wide: 64,303
• Since beginning of last month:
  • Site-wide: 120,547

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

• Downloaded 327 times
• Download rankings, all-time:
  • Site-wide: 93,322
  • In genetic and genomic medicine: 422
• Year to date:
  • Site-wide: 17,090
• Since beginning of last month:
  • Site-wide: 67,796

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

• Downloaded 290 times
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  • Site-wide: 101,913
  • In genetic and genomic medicine: 488
• Year to date:
  • Site-wide: 20,255
• Since beginning of last month:
  • Site-wide: 53,124

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

• Downloaded 244 times
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  • Site-wide: 112,925
  • In genetic and genomic medicine: 580
• Year to date:
  • Site-wide: 25,463
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  • Site-wide: 18,762

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

• Downloaded 176 times
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  • Site-wide: 129,877
  • In genetics: 5,303
• Year to date:
  • Site-wide: 88,915
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  • Site-wide: None

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

• Downloaded 168 times
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  • Site-wide: 131,769
  • In genetics: 5,361
• Year to date:
  • Site-wide: 66,355
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  • Site-wide: None

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

• Downloaded 139 times
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  • Site-wide: 138,310
  • In genetic and genomic medicine: 769
• Year to date:
  • Site-wide: 79,516
• Since beginning of last month:
  • Site-wide: 34,540

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

• Downloaded 104 times
• Download rankings, all-time:
  • Site-wide: 145,374
  • In genetic and genomic medicine: 843
• Year to date:
  • Site-wide: 66,340
• Since beginning of last month:
  • Site-wide: 3,200

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

• Downloaded 57 times
• Download rankings, all-time:
  • Site-wide: 151,627
  • In genetic and genomic medicine: 907
• Year to date:
  • Site-wide: 105,701
• Since beginning of last month:
  • Site-wide: 7,010