Author: Stacey Gabriel

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Preprints

Performance and Implementation Evaluation of the Abbott BinaxNOW Rapid Antigen Test in a High-throughput Drive-through Community Testing Site in Massachusetts

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The mutational constraint spectrum quantified from variation in 141,456 humans

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An open resource of structural variation for medical and population genetics

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

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Scaling accurate genetic variant discovery to tens of thousands of samples

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A reference panel of 64,976 haplotypes for genotype imputation

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Using viral load and epidemic dynamics to optimize pooled testing in resource constrained settings

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

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Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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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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Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

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

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