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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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: 2,653
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  • Site-wide: 57,918

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

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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 4,004
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  • Site-wide: 56,093
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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

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  • Site-wide: 5,729
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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • In genetic and genomic medicine: 25
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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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

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Towards a Fine-scale Population Health Monitoring System

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  • In genomics: 2,319
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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

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  • In genomics: 2,815
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  • Site-wide: 107,645

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

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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: 37,169
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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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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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  • Site-wide: 41,423
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  • Site-wide: 79,453
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One size does not fit all. Genomics differentiates among binge-eating disorder, bulimia nervosa, and anorexia nervosa

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  • Site-wide: 45,315
  • In psychiatry and clinical psychology: 149
• Year to date:
  • Site-wide: 11,908
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  • Site-wide: 19,163

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

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  • Site-wide: 45,402
  • In genetics: 2,130
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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

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  • In bioinformatics: 5,128
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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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

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  • Site-wide: 52,032
  • In genomics: 4,036
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Exome Sequencing Reveals a High Prevalence of BRCA1 and BRCA2 Founder Variants in a Diverse Population-Based Biobank

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

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  • In epidemiology: 3,129
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  • Site-wide: 14,898

Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 Individuals

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  • In genetic and genomic medicine: 322
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  • Site-wide: 6,774
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Polygenic score for body mass index is associated with disordered eating in a general population cohort

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  • Site-wide: 102,129
  • In genetic and genomic medicine: 425
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  • Site-wide: 99,875

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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  • Site-wide: 108,132
  • In genetic and genomic medicine: 469
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A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

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

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  • Site-wide: 122,654
  • In genetic and genomic medicine: 587
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Implementing genomic screening in diverse populations

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  • Site-wide: 123,478
  • In genetic and genomic medicine: 597
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  • Site-wide: 21,300
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  • Site-wide: 39,208

Constitutional thinness and anorexia nervosa differ on a genomic level

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• Year to date:
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  • Site-wide: 9,019