Author: May E Montasser

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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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  • Site-wide: 5,735
  • In genomics: 526
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  • Site-wide: 37,626
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  • Site-wide: None

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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  • Site-wide: 105,640
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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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  • Site-wide: 54,212
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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: 56,958
  • In genetic and genomic medicine: 352
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  • Site-wide: 63,310
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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  • Site-wide: 63,634
  • In genetics: 2,424
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Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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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: 2,748
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  • Site-wide: 124,122
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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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  • In genetic and genomic medicine: 638
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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  • Site-wide: 105,878
  • In bioinformatics: 8,738
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  • Site-wide: 181,960

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

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  • Site-wide: 108,591
  • In genetic and genomic medicine: 729
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  • Site-wide: 23,718
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Leveraging a founder population to identify novel rare-population genetic determinants of lipidome

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  • In genetics: 4,916
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  • Site-wide: 131,264
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Distribution of 54 polygenic risk scores for common diseases in long lived individuals and their offspring

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  • In genetic and genomic medicine: 1,114
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