Author: Charles Kooperberg

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

• Downloaded 13,676 times
• Download rankings, all-time:
  • Site-wide: 725
  • In genetics: 14
• Year to date:
  • Site-wide: 1,377
• Since beginning of last month:
  • Site-wide: 1,744

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

• Downloaded 8,701 times
• Download rankings, all-time:
  • Site-wide: 1,295
  • In genomics: 96
• Year to date:
  • Site-wide: 4,481
• Since beginning of last month:
  • Site-wide: 15,120

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,655 times
• Download rankings, all-time:
  • Site-wide: 2,953
  • In genetics: 92
• Year to date:
  • Site-wide: 118,390
• Since beginning of last month:
  • Site-wide: 90,058

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

• Downloaded 3,350 times
• Download rankings, all-time:
  • Site-wide: 4,711
  • In genetics: 174
• Year to date:
  • Site-wide: 45,107
• Since beginning of last month:
  • Site-wide: 56,921

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

• Downloaded 3,235 times
• Download rankings, all-time:
  • Site-wide: 4,941
  • In genomics: 486
• Year to date:
  • Site-wide: 11,889
• Since beginning of last month:
  • Site-wide: 37,150

Improving reporting standards for polygenic scores in risk prediction studies

• Downloaded 2,688 times
• Download rankings, all-time:
  • Site-wide: 6,453
  • In genetic and genomic medicine: 29
• Year to date:
  • Site-wide: 4,306
• Since beginning of last month:
  • Site-wide: 12,189

Genetic insights into the biological mechanisms governing human ovarian ageing

• Downloaded 2,199 times
• Download rankings, all-time:
  • Site-wide: 8,695
  • In sexual and reproductive health: 12
• Year to date:
  • Site-wide: 1,749
• Since beginning of last month:
  • Site-wide: 2,820

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

• Downloaded 2,133 times
• Download rankings, all-time:
  • Site-wide: 9,080
  • In genetics: 375
• Year to date:
  • Site-wide: 5,864
• Since beginning of last month:
  • Site-wide: 10,221

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

• Downloaded 1,784 times
• Download rankings, all-time:
  • Site-wide: 11,874
  • In genetic and genomic medicine: 54
• Year to date:
  • Site-wide: 5,826
• Since beginning of last month:
  • Site-wide: 5,711

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

• Downloaded 1,277 times
• Download rankings, all-time:
  • Site-wide: 19,762
  • In genetics: 878
• Year to date:
  • Site-wide: 5,392
• Since beginning of last month:
  • Site-wide: 13,090

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

• Downloaded 1,205 times
• Download rankings, all-time:
  • Site-wide: 21,593
  • In genetics: 943
• Year to date:
  • Site-wide: 115,988
• Since beginning of last month:
  • Site-wide: 135,052

Integration of rare large-effect expression variants improves polygenic risk prediction

• Downloaded 1,006 times
• Download rankings, all-time:
  • Site-wide: 28,336
  • In genetic and genomic medicine: 133
• Year to date:
  • Site-wide: 12,611
• Since beginning of last month:
  • Site-wide: 18,702

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 887 times
• Download rankings, all-time:
  • Site-wide: 34,122
  • In genetics: 1,492
• Year to date:
  • Site-wide: 114,165
• Since beginning of last month:
  • Site-wide: 141,899

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

• Downloaded 880 times
• Download rankings, all-time:
  • Site-wide: 34,488
  • In genetics: 1,504
• Year to date:
  • Site-wide: 147,264
• Since beginning of last month:
  • Site-wide: 151,074

Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

• Downloaded 868 times
• Download rankings, all-time:
  • Site-wide: 35,139
  • In infectious diseases: 2,782
• Year to date:
  • Site-wide: 6,768
• Since beginning of last month:
  • Site-wide: 7,668

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

• Downloaded 840 times
• Download rankings, all-time:
  • Site-wide: 36,884
  • In hematology: 33
• Year to date:
  • Site-wide: 10,444
• Since beginning of last month:
  • Site-wide: 22,174

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

• Downloaded 837 times
• Download rankings, all-time:
  • Site-wide: 37,134
  • In genomics: 3,039
• Year to date:
  • Site-wide: 97,323
• Since beginning of last month:
  • Site-wide: 95,226

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

• Downloaded 758 times
• Download rankings, all-time:
  • Site-wide: 42,805
  • In genetics: 1,850
• Year to date:
  • Site-wide: 150,949
• Since beginning of last month:
  • Site-wide: 133,102

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 699 times
• Download rankings, all-time:
  • Site-wide: 48,003
  • In genomics: 3,669
• Year to date:
  • Site-wide: 146,837
• Since beginning of last month:
  • Site-wide: 160,307

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

• Downloaded 668 times
• Download rankings, all-time:
  • Site-wide: 51,071
  • In genetics: 2,175
• Year to date:
  • Site-wide: 128,438
• Since beginning of last month:
  • Site-wide: 142,249

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

• Downloaded 628 times
• Download rankings, all-time:
  • Site-wide: 55,475
  • In genetics: 2,351
• Year to date:
  • Site-wide: 144,633
• Since beginning of last month:
  • Site-wide: 123,647

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 597 times
• Download rankings, all-time:
  • Site-wide: 59,195
  • In genetic and genomic medicine: 281
• Year to date:
  • Site-wide: 24,097
• Since beginning of last month:
  • Site-wide: 22,587

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

• Downloaded 571 times
• Download rankings, all-time:
  • Site-wide: 62,602
  • In genetics: 2,663
• Year to date:
  • Site-wide: 30,052
• Since beginning of last month:
  • Site-wide: 83,982

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 569 times
• Download rankings, all-time:
  • Site-wide: 62,851
  • In genomics: 4,483
• Year to date:
  • Site-wide: 136,691
• Since beginning of last month:
  • Site-wide: 84,288

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

• Downloaded 490 times
• Download rankings, all-time:
  • Site-wide: 74,882
  • In genetic and genomic medicine: 368
• Year to date:
  • Site-wide: 16,575
• Since beginning of last month:
  • Site-wide: 21,841

Threshold trait architecture of Hsp90-buffered variation

• Downloaded 478 times
• Download rankings, all-time:
  • Site-wide: 77,134
  • In genetics: 3,263
• Year to date:
  • Site-wide: 141,859
• Since beginning of last month:
  • Site-wide: 126,741

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

• Downloaded 463 times
• Download rankings, all-time:
  • Site-wide: 79,795
  • In genomics: 5,232
• Year to date:
  • Site-wide: 39,125
• Since beginning of last month:
  • Site-wide: 18,268

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 431 times
• Download rankings, all-time:
  • Site-wide: 86,042
  • In genetics: 3,602
• Year to date:
  • Site-wide: 137,441
• Since beginning of last month:
  • Site-wide: 153,591

Multi-ethnic genome-wide association study of decomposed cardioelectric phenotypes illustrates strategies to identify and characterize evidence of shared genetic effects for complex traits

• Downloaded 419 times
• Download rankings, all-time:
  • Site-wide: 88,428
  • In epidemiology: 3,807
• Year to date:
  • Site-wide: 136,432
• Since beginning of last month:
  • Site-wide: 147,292

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

• Downloaded 409 times
• Download rankings, all-time:
  • Site-wide: 90,594
  • In bioinformatics: 7,995
• Year to date:
  • Site-wide: 90,506
• Since beginning of last month:
  • Site-wide: 149,140

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

• Downloaded 373 times
• Download rankings, all-time:
  • Site-wide: 98,499
  • In genetics: 4,085
• Year to date:
  • Site-wide: 25,281
• Since beginning of last month:
  • Site-wide: 1,937

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

• Downloaded 371 times
• Download rankings, all-time:
  • Site-wide: 99,194
  • In genetic and genomic medicine: 527
• Year to date:
  • Site-wide: 25,465
• Since beginning of last month:
  • Site-wide: 50,625

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

• Downloaded 357 times
• Download rankings, all-time:
  • Site-wide: 102,464
  • In genetics: 4,227
• Year to date:
  • Site-wide: 26,969
• Since beginning of last month:
  • Site-wide: 55,414

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

• Downloaded 344 times
• Download rankings, all-time:
  • Site-wide: 105,481
  • In epidemiology: 4,473
• Year to date:
  • Site-wide: 139,227
• Since beginning of last month:
  • Site-wide: 148,801

GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

• Downloaded 324 times
• Download rankings, all-time:
  • Site-wide: 110,676
  • In genetics: 4,534
• Year to date:
  • Site-wide: 137,961
• Since beginning of last month:
  • Site-wide: 62,700

Genetic architectures of proximal and distal colorectal cancer are partly distinct

• Downloaded 308 times
• Download rankings, all-time:
  • Site-wide: 114,626
  • In genetic and genomic medicine: 647
• Year to date:
  • Site-wide: 109,733
• Since beginning of last month:
  • Site-wide: 149,234

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

• Downloaded 293 times
• Download rankings, all-time:
  • Site-wide: 118,620
  • In genetic and genomic medicine: 670
• Year to date:
  • Site-wide: 35,697
• Since beginning of last month:
  • Site-wide: 73,692

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

• Downloaded 291 times
• Download rankings, all-time:
  • Site-wide: 119,151
  • In genetics: 4,833
• Year to date:
  • Site-wide: 36,060
• Since beginning of last month:
  • Site-wide: 3,129

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

• Downloaded 290 times
• Download rankings, all-time:
  • Site-wide: 119,458
  • In genetic and genomic medicine: 675
• Year to date:
  • Site-wide: 36,175
• Since beginning of last month:
  • Site-wide: 82,740

Broad Clinical Manifestations of Polygenic Risk for Coronary Artery Disease in the Women's Health Initiative

• Downloaded 270 times
• Download rankings, all-time:
  • Site-wide: 124,795
  • In genetic and genomic medicine: 720
• Year to date:
  • Site-wide: 40,058
• Since beginning of last month:
  • Site-wide: 61,717

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

• Downloaded 242 times
• Download rankings, all-time:
  • Site-wide: 132,143
  • In genetic and genomic medicine: 772
• Year to date:
  • Site-wide: 46,085
• Since beginning of last month:
  • Site-wide: 95,800

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

• Downloaded 207 times
• Download rankings, all-time:
  • Site-wide: 140,881
  • In genetic and genomic medicine: 828
• Year to date:
  • Site-wide: 56,311
• Since beginning of last month:
  • Site-wide: 5,390

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

• Downloaded 96 times
• Download rankings, all-time:
  • Site-wide: 161,006
  • In genetic and genomic medicine: 1,036
• Year to date:
  • Site-wide: 118,852
• Since beginning of last month:
  • Site-wide: 19,182