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: 1,202
  • In genomics: 97
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  • Site-wide: 3,936
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  • Site-wide: 57,857

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: 4,344
  • In genomics: 443
• Year to date:
  • Site-wide: 89,795
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  • Site-wide: 99,211

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

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  • Site-wide: 4,719
  • In genomics: 488
• Year to date:
  • Site-wide: 10,255
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  • Site-wide: 88,996

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

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  • Site-wide: 9,641
  • In genetics: 418
• Year to date:
  • Site-wide: 92,091
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  • Site-wide: 31,940

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

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  • Site-wide: 10,834
  • In genetics: 478
• Year to date:
  • Site-wide: 54,153
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  • Site-wide: 19,806

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

• Downloaded 1,478 times
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  • Site-wide: 13,875
  • In genetic and genomic medicine: 62
• Year to date:
  • Site-wide: 6,258
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  • Site-wide: 9,608

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

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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

Within-sibship GWAS improve estimates of direct genetic effects

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  • Site-wide: 14,881
  • In genetics: 687
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  • Site-wide: 2,070
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  • Site-wide: 59,427

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 20,578
  • In genetics: 943
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  • Site-wide: 9,021
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  • Site-wide: 6,001

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 25,110
  • In genetics: 1,140
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  • Site-wide: 25,488
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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: 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

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

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: 68,185
  • In genetic and genomic medicine: 281
• Year to date:
  • Site-wide: 24,960
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  • Site-wide: 41,991

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

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  • Site-wide: 92,294
  • In epidemiology: 3,893
• Year to date:
  • Site-wide: 101,640
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  • Site-wide: 56,968

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: 101,913
  • In genetic and genomic medicine: 488
• Year to date:
  • Site-wide: 20,255
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  • Site-wide: 53,124

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

• Downloaded 275 times
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  • Site-wide: 105,487
  • In genetics: 4,475
• Year to date:
  • Site-wide: 151,606
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  • Site-wide: None

Knockout of murine Lyplal1 confers sex-specific protection against diet-induced obesity

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  • Site-wide: 155,531
  • In biochemistry: 4,682
• Year to date:
  • Site-wide: 155,372
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  • Site-wide: 91,858