Author: Brian E Cade

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Preprints

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

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

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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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  • In genetic and genomic medicine: 54
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GWAS in 446,118 European adults identifies 78 genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

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  • Site-wide: 14,426
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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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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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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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De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

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Genome-wide association analysis of excessive daytime sleepiness identifies 42 loci that suggest phenotypic subgroups

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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: 59,090
  • In genetic and genomic medicine: 279
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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  • In genetics: 2,661
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  • Site-wide: 29,856
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  • Site-wide: 81,124

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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  • In genomics: 4,478
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

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  • Site-wide: 74,571
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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  • Site-wide: 79,578
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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  • Site-wide: 90,335
  • In bioinformatics: 7,981
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Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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  • Site-wide: 98,354
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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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Epigenome-wide association analysis of daytime sleepiness in the Multi-Ethnic Study of Atherosclerosis reveals African-American specific associations

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  • Site-wide: 100,437
  • In genomics: 6,061
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Pathway-specific Polygenic Risk Scores (PRS) identify OSA-related pathways differentially moderating genetic susceptibility to CAD

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  • Site-wide: 118,476
  • In cardiovascular medicine: 297
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Transcriptional survey of peripheral blood links lower oxygen saturation during sleep with reduced expressions of CD1D and RAB20 that is reversed by CPAP therapy

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  • Site-wide: 119,873
  • In genetic and genomic medicine: 683
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A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

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  • Site-wide: 122,201
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Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

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