Author: Sharon LR Kardia

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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: 1,402
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Heterogeneity in polygenic scores for common human traits

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  • Site-wide: 2,953
  • In genetics: 118
• Year to date:
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Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

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• Year to date:
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Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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  • Site-wide: 3,501
  • In genomics: 397
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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  • Site-wide: 4,298
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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: 7,966
  • In genetics: 387
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Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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  • Site-wide: 76,684
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  • Site-wide: 78,427

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

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  • Site-wide: 14,350
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  • Site-wide: 10,781

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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

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

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  • Site-wide: 20,270
  • In genetic and genomic medicine: 61
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  • Site-wide: 6,780
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • In genetics: 1,350
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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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

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  • Site-wide: 35,225
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Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

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  • In genetics: 2,042
• Year to date:
  • Site-wide: 110,184
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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: 49,231
  • In genetics: 2,349
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Genetic insights into the biological mechanisms governing human ovarian ageing

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  • Site-wide: 53,356
  • In sexual and reproductive health: 20
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  • Site-wide: 1,386
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  • Site-wide: 1,563

A non-APOE polygenic score for Alzheimer's disease and APOE-ε4 have independent associations with dementia in the Health and Retirement Study

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  • Site-wide: 58,780
  • In epidemiology: 2,508
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  • Site-wide: 42,881
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  • Site-wide: 41,073

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

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  • Site-wide: 82,592
  • In epidemiology: 3,371
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  • Site-wide: 64,063
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  • Site-wide: 50,641

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

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  • Site-wide: 83,322
  • In genetics: 3,840
• Year to date:
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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: 86,416
  • In genetic and genomic medicine: 289
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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • In genetics: 4,054
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  • Site-wide: 101,646

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: 112,403
  • In genetic and genomic medicine: 489
• Year to date:
  • Site-wide: 7,074
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  • Site-wide: 13,574