Author: Jeffrey R O’Connell

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Preprints

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

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies

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

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

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Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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

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Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies

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BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

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