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CFTR variants are associated with chronic bronchitis in smokers |
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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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eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data |
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Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen |
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Multiethnic genome-wide and HLA association study of total serum IgE level |
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Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults |
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Whole Genome Sequence Analysis of the Plasma Proteome in Black Individuals |
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Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project |
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Type 2 immune development depends on MARCH1-mediated turnover of MHCII and CD86 by lymph node resident dendritic cells |
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Association of mitochondrial DNA copy number with cardiometabolic diseases |
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Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits |
American Journal of Human Genetics |
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A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response |
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Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine Initiative |
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ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing |
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program |
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Epigenome-wide association study of mitochondrial genome copy number |
Human Molecular Genetics |
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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis |
Circulation: Genomic and Precision Medicine |
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Population sequencing data reveal a compendium of mutational processes in the human germ line |
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Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry |
Mitochondrion |
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BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion |
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Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations |
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Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure |
Journal of the American College of Cardiology |
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Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program |
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging |
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Clonal hematopoiesis associated with epigenetic aging and clinical outcomes |
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Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies |
Briefings in Bioinformatics |
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Genome Sequencing Unveils a Regulatory Landscape of Platelet Reactivity |
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Variant-specific inflation factors for assessing population stratification at the phenotypic variance level |
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Identification of putative causal loci in whole-genome sequencing data via knockoff statistics |
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Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci |
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Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants |
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Novel recessive locus for body mass index in childhood asthma |
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Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium |
Genome Medicine |
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program |
American Journal of Human Genetics |
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A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program |
American Journal of Epidemiology |
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices |
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries |
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Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative. |
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The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians |
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program |
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Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium |
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Proteomic signatures of lifestyle risk factors for cardiovascular disease: A cross-sectional analysis of the plasma proteome in the Framingham Heart Study |
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A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests |
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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease |
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Effect of Sickle Cell Trait and APOL1 Genotype on the Association of Soluble uPAR with Kidney Function Measures in Blacks |
Clinical Journal of the American Society of Nephrology |
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Asthma and its relationship to mitochondrial copy number: results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omic Precision Medicine (TOPMed) Program |
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Diversity of variant alleles encoding Kidd, Duffy and Kell antigens in Sickle Cell Disease patients using Whole Genome Sequencing data from the TOPMed Consortium |
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Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women |
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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder |
American Journal of Medical Genetics Part A |
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Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing |
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes |
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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants |
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Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium |
Nature Communications |
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Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs |
Genome Medicine |
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Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women |
Alzheimer’s & Dementia |
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Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans |
American Journal of Respiratory and Critical Care Medicine |
2020 |
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An interaction of the 17q12-21 locus with mold exposure in childhood asthma |
Pediatric Allergy and Immunology |
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locStra: Fast analysis of regional/global stratification in whole genome sequencing (WGS) studies |
Genetic Epidemiology |
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Transcriptomic signatures across human tissues identify functional rare genetic variation |
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Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations |
Genetic Epidemiology |
2020 |
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A Novel Locus for Exertional Dyspnea in Childhood Asthma |
European Respiratory Journal |
2020 |
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale |
Nature Genetics |
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Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways |
Journal of Allergy and Clinical Immunology |
2020 |
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Genome-wide Association of Kidney Traits in Hispanics/Latinos Using Dense Imputed Whole Genome Sequencing Data: The Hispanic Community Health Study/Study of Latinos |
Circulation: Genomic and Precision Medicine |
2020 |
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Population-Specific Recombination Maps from Segments of Identity by Descent |
American Journal of Human Genetics |
2020 |
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Whole Genome Sequencing Identifies Novel Functional Loci Associated With Lung Function in Puerto Rican Youth |
American Journal of Respiratory and Critical Care Medicine |
2020 |
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Comparison of Proteomic Assessment Methods in Multiple Cohort Studies |
Proteomics |
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Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy |
Nature Communications |
2020 |
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Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma |
Genetics |
2020 |
32327564 |
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Evolutionary History of Modern Samoans |
Proceedings of the National Academy of Sciences |
2020 |
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Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans |
Ocular Immunology and Inflammation |
2020 |
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Coagulation factor VIII: Relationship to Cardiovascular Disease Risk and Whole Genome Sequence and Epigenome-Wide Analysis in African Americans |
Journal of Thrombosis and Haemostasis |
2020 |
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Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci |
Nature Genetics |
2020 |
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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population |
Proceedings of the National Academy of Sciences of the United States of America |
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Haplotype-aware graph indexes |
Bioinformatics |
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HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma |
Proceedings of the National Academy of Sciences of the United States of America |
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Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts |
American Journal of Human Genetics |
2019 |
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Use of >100,000 Deep Coverage Whole Genome Sequences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Project Results in Improved Imputation Quality and Detection of Rare Variant Associations in Admixed African and Hispanic/Latino Populations |
PLOS Genetics |
2019 |
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Genetic association testing using the GENESIS R/Bioconductor package |
Bioinformatics |
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Rare Genetic Variants Associated With Sudden Cardiac Death in Adults |
Journal of the American College of Cardiology |
2019 |
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A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. |
Genetic Epidemiology |
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Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico |
Pediatric Pulmonology |
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Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. |
American Journal of Human Genetics |
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Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent |
American Journal of Human Genetics |
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Impact of rare and common genetic variants on type 2 diabetes diagnosis by hemoglobin A1c in multi-ancestry populations from the Trans-Omics for Precision Medicine (TOPMed) Program |
American Journal of Human Genetics |
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Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma |
Chest |
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Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity |
American Journal of Human Genetics |
2019 |
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Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. |
Circulation |
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An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. |
Frontiers in Genetics |
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Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans |
Human Molecular Genetics |
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Leveraging linkage evidence to identify low frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data |
Human Genetics |
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A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies |
Genetic Epidemiology |
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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies |
American Journal of Human Genetics |
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Association between titin loss-of-function variants and early-onset atrial fibrillation. |
JAMA: The Journal of the American Medical Association |
2018 |
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Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease |
American Journal of Respiratory and Critical Care Medicine |
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An APOO pseudogene on chromosome 5q regulates LDL-C levels |
Circulation |
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals |
Nature Communications |
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries |
Nature Communications |
2018 |
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Genomic characterization of the RH locus detects common, complex and novel structural variation in two multi-ethnic cohorts |
Nature Genetics in Medicine |
2018 |
29955105 |
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Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma |
American Journal of Respiratory and Critical Care Medicine |
2018 |
29509491 |
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Genotypes, Phenotypes and Whole Genome Sequence: Approaches From the My Life Our Future Haemophilia Project |
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A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans |
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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease |
PLOS Genetics |
2018 |
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An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. |
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2018 |
29463568 |
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Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes |
Human Genetics |
2018 |
29423652 |
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Whole genome sequence analyses of brain imaging measures in the Framingham Study |
Neurology |
2017 |
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Tonicity-Responsive Enhancer-Binding Protein Mediates Hyperglycemia-Induced Inflammation and Vascular and Renal Injury |
Journal of the American Society of Nephrology |
2017 |
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Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology |
Nature Genetics |
2017 |
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D-dimer in African Americans: Whole Genome Sequence Analysis and Relationship to CVD Risk in the Jackson Heart Study |
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2017 |
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