Author: Stephen S Rich

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Preprints

Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies

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Recovery of trait heritability from whole genome sequence data

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

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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

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Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci

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Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

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Population sequencing data reveal a compendium of mutational processes in human germline

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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

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Using genotype data to distinguish pleiotropy from heterogeneity: deciphering coheritability in autoimmune and neuropsychiatric diseases

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Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

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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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The maternal-fetal interface of successful pregnancies and impact of fetal sex using single cell sequencing

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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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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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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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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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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 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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Genome-Wide Association Study Reveals Genetic Link Between Diarrhea-Associated Entamoeba histolytica Infection And Inflammatory Bowel Disease

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Meta-analysis of exome array data identifies six novel genetic loci for lung function

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Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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

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Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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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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Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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

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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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