Author: James G Wilson

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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

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  • Site-wide: 991
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An epigenetic biomarker of aging for lifespan and healthspan

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  • In epidemiology: 352
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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

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  • Site-wide: 6,159
  • In genomics: 724
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 7,434
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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
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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

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  • In bioinformatics: 2,542
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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: 5,990
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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
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  • Site-wide: 6,401

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

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  • Site-wide: 23,324
  • In genetic and genomic medicine: 61
• Year to date:
  • Site-wide: 10,098
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  • Site-wide: 5,812

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
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  • Site-wide: 50,129
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 27,230
  • In genetics: 1,372
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  • Site-wide: 21,363
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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  • Site-wide: 28,969
  • In genomics: 2,676
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  • Site-wide: 55,655
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  • Site-wide: 115,808

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
• Year to date:
  • Site-wide: 20,972
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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
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  • Site-wide: 39,215
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De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

• Downloaded 665 times
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  • Site-wide: 32,941
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• Year to date:
  • Site-wide: 116,090
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  • Site-wide: 58,769

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 654 times
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  • Site-wide: 33,685
  • In genomics: 2,986
• Year to date:
  • Site-wide: 16,979
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  • Site-wide: 49,685

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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  • Site-wide: 38,316
  • In genetics: 1,895
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  • Site-wide: 110,906
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  • Site-wide: 113,821

Meta-analysis of exome array data identifies six novel genetic loci for lung function

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  • Site-wide: 50,708
  • In genetics: 2,460
• Year to date:
  • Site-wide: 59,339
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  • Site-wide: 113,283

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: 51,521
  • In genetics: 2,496
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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  • Site-wide: 57,698
  • In genetics: 2,774
• Year to date:
  • Site-wide: 50,915
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  • Site-wide: 56,058

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
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  • Site-wide: 72,358
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  • Site-wide: 85,916

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: 43,528
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  • Site-wide: 29,244

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

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  • Site-wide: 92,803
  • In genetic and genomic medicine: 305
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  • Site-wide: 38,684
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  • Site-wide: 9,003

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: 119,264
  • In genetic and genomic medicine: 516
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