Author: Ruth J.F. Loos

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Preprints

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

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  • Site-wide: 964
  • In genomics: 93
• Year to date:
  • Site-wide: 1,618
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  • Site-wide: 1,627

Genomic risk prediction of coronary artery disease in nearly 500,000 adults: implications for early screening and primary prevention

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  • Site-wide: 2,285
  • In genetics: 97
• Year to date:
  • Site-wide: 18,430
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  • Site-wide: 10,432

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

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  • Site-wide: 3,396
  • In genetics: 157
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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 3,519
  • In genetics: 165
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  • Site-wide: None
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  • Site-wide: 59,760

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

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  • Site-wide: 4,167
  • In genomics: 497
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  • Site-wide: 6,227

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 6,013
  • In genetics: 305
• Year to date:
  • Site-wide: 3,901
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  • Site-wide: 8,814

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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  • Site-wide: 6,804
  • In genomics: 779
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  • Site-wide: 11,307
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  • Site-wide: 31,351

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 6,935
  • In genetic and genomic medicine: 17
• Year to date:
  • Site-wide: 30,855
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  • Site-wide: 10,645

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

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  • Site-wide: 8,742
  • In genetics: 450
• Year to date:
  • Site-wide: 40,216
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  • Site-wide: 28,708

Towards a Fine-scale Population Health Monitoring System

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  • Site-wide: 25,475
  • In genomics: 2,454
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  • Site-wide: 8,489
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  • Site-wide: 7,775

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 26,665
  • In genetics: 1,356
• Year to date:
  • Site-wide: 11,688
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  • Site-wide: 18,141

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

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  • Site-wide: 28,661
  • In genomics: 2,669
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  • Site-wide: None
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  • Site-wide: 113,754

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 695 times
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  • Site-wide: 30,432
  • In genetics: 1,547
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  • Site-wide: None
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  • Site-wide: 103,471

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: 33,049
  • In genomics: 2,951
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  • Site-wide: 9,724
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  • Site-wide: 38,100

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 33,619
  • In genetics: 1,698
• Year to date:
  • Site-wide: 12,283
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  • Site-wide: 8,254

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

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  • Site-wide: 37,911
  • In genetics: 1,886
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  • Site-wide: 44,339
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  • Site-wide: 48,841

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

• Downloaded 548 times
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  • Site-wide: 41,361
  • In genetics: 2,045
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  • Site-wide: 67,015
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  • Site-wide: 77,275

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 491 times
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  • Site-wide: 47,081
  • In genomics: 3,793
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  • Site-wide: None
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  • Site-wide: 109,289

Augmented Intelligence with Natural Language Processing Applied to Electronic Health Records is Useful for Identifying Patients with Non-Alcoholic Fatty Liver Disease at Risk for Disease Progression

• Downloaded 484 times
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  • Site-wide: 47,949
  • In bioinformatics: 5,036
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  • Site-wide: None
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  • Site-wide: 109,410

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

• Downloaded 462 times
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  • Site-wide: 50,511
  • In genetics: 2,466
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  • Site-wide: 405
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  • Site-wide: 1,009

One size does not fit all. Genomics differentiates among binge-eating disorder, bulimia nervosa, and anorexia nervosa

• Downloaded 438 times
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  • Site-wide: 53,503
  • In psychiatry and clinical psychology: 153
• Year to date:
  • Site-wide: 1,929
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  • Site-wide: 45,219

Exome Sequencing Reveals a High Prevalence of BRCA1 and BRCA2 Founder Variants in a Diverse Population-Based Biobank

• Downloaded 436 times
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  • Site-wide: 53,746
  • In genomics: 4,140
• Year to date:
  • Site-wide: 30,232
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  • Site-wide: 67,219

Composite trait Mendelian Randomization reveals distinct metabolic and lifestyle consequences of differences in body shape

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  • Site-wide: 84,649
  • In epidemiology: 3,392
• Year to date:
  • Site-wide: 53,667
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  • Site-wide: 21,099

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

• Downloaded 238 times
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  • Site-wide: 88,038
  • In hematology: 50
• Year to date:
  • Site-wide: 2,171
• Since beginning of last month:
  • Site-wide: 1,819

Polygenic score for body mass index is associated with disordered eating in a general population cohort

• Downloaded 202 times
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  • Site-wide: 95,630
  • In genetic and genomic medicine: 331
• Year to date:
  • Site-wide: 74,334
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  • Site-wide: 64,195

The impact of anorexia nervosa and obesity polygenic risk on childhood growth: a 20-year longitudinal population-based study

• Downloaded 93 times
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  • Site-wide: 115,843
  • In genetic and genomic medicine: 491
• Year to date:
  • Site-wide: 71,217
• Since beginning of last month:
  • Site-wide: 58,680

Implementing genomic screening in diverse populations

• Downloaded 49 times
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  • Site-wide: 121,474
  • In genetic and genomic medicine: 534
• Year to date:
  • Site-wide: 2,721
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  • Site-wide: None