Author: Lawrence F Bielak

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Preprints

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

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  • Site-wide: 1,046
  • In genomics: 95
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  • Site-wide: 2,289
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  • Site-wide: 5,426

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

• Downloaded 3,247 times
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  • Site-wide: 3,711
  • In genomics: 418
• Year to date:
  • Site-wide: 61,180
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  • Site-wide: 46,366

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

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  • Site-wide: 4,308
  • In genomics: 478
• Year to date:
  • Site-wide: 6,775
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  • Site-wide: 6,997

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 8,430
  • In genetics: 396
• Year to date:
  • Site-wide: 89,196
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  • Site-wide: 91,894

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

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  • Site-wide: 9,916
  • In genetics: 471
• Year to date:
  • Site-wide: 65,273
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  • Site-wide: 47,049

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

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  • Site-wide: 14,211
  • In genetics: 695
• Year to date:
  • Site-wide: 19,314
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  • Site-wide: 14,439

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

• Downloaded 1,083 times
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  • Site-wide: 18,734
  • In genetic and genomic medicine: 64
• Year to date:
  • Site-wide: 8,097
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  • Site-wide: 10,410

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 25,420
  • In genetics: 1,229
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  • Site-wide: 12,143

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: 26,978
  • In genetics: 1,303
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  • Site-wide: 93,312
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  • Site-wide: 103,623

Within-sibship GWAS improve estimates of direct genetic effects

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  • Site-wide: 28,828
  • In genetics: 1,394
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  • Site-wide: 1,568
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  • Site-wide: 487

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 29,220
  • In genetics: 1,417
• Year to date:
  • Site-wide: 14,651
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  • Site-wide: 11,671

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

• Downloaded 747 times
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  • Site-wide: 31,796
  • In genomics: 2,827
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  • Site-wide: 73,782
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  • Site-wide: 86,843

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: 41,016
  • In genetics: 1,946
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  • Site-wide: 5,252
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  • Site-wide: 17,134

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: 81,335
  • In genetic and genomic medicine: 292
• Year to date:
  • Site-wide: 24,683
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  • Site-wide: 22,976

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

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  • Site-wide: 85,262
  • In epidemiology: 3,518
• Year to date:
  • Site-wide: 79,221
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

• Downloaded 292 times
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  • Site-wide: 87,092
  • In genetics: 3,944
• Year to date:
  • Site-wide: 50,780
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  • Site-wide: None

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • Site-wide: 92,058
  • In genetics: 4,142
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  • Site-wide: 121,347
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  • Site-wide: 105,299

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

• Downloaded 178 times
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  • Site-wide: 112,334
  • In genetic and genomic medicine: 502
• Year to date:
  • Site-wide: 13,210
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  • Site-wide: 38,847