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DDX58 is Associated with Susceptibility to Severe Influenza Virus Infection in Children and Adolescents |
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Extent to which array genotyping and imputation with large reference panels approximates deep whole genome sequencing |
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GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing |
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A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data |
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Accounting for population structure in genetic studies of cystic fibrosis |
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The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations |
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Lymphocyte activation gene-3-associated protein networks are associated with HDL-cholesterol and mortality in the Trans-omics for Precision Medicine program |
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TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data |
American Journal of Human Genetics |
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Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis |
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Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential |
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population |
Circulation |
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Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program |
American Journal of Human Genetics |
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Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology |
Nat Commun |
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Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data |
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Clonal Hematopoiesis Is Associated With Higher Risk of Stroke |
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Protein prediction for trait mapping in diverse populations |
PLoS One |
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Rare Genetic Variants Associated with Myocardial Fibrosis; Multi-Ethnic Study of Atherosclerosis (MESA) |
Frontiers in Cardiovascular Medicine |
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Rare coding variants in RCN3 are associated with blood pressure |
BMC Genomics |
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Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based mendelian randomization study |
Sci Rep |
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Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease |
Blood |
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Epigenome-wide association study of lung function in Latino children and youth with asthma |
Clinical Epigenetics |
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Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed |
Cell Genom |
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CFTR variants are associated with chronic bronchitis in smokers |
European Respiratory Journal |
2022 |
34996830 |
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Clonal hematopoiesis in sickle cell disease |
Nature Medicine |
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34990411 |
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Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes |
Cell Genomics |
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A smoothed version of the Lassosum penalty for fitting integrated risk models |
Genes (Basel) |
2022 |
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Associations between DNA methylation and BMI vary by metabolic health status: a potential link to disparate cardiovascular outcomes |
Clin Epigenetics |
2021 |
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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes |
Science |
2021 |
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eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data |
AJHG |
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Diet Quality Scores are Positively Associated with Whole Blood-derived Mitochondrial DNA Copy Number in the Framingham Heart Study |
journal of nutrition |
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34875096 |
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Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen |
Nature |
2021 |
34855475 |
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Multiethnic genome-wide and HLA association study of total serum IgE level |
Journal of Allergy and Clinical Immunology |
2021 |
34536413 |
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Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults |
Circ Genom Precis Med |
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Metabo-Endotypes of Asthma Reveal Clinically Important Differences in Lung Function: Discovery and validation in two TOPMed Cohorts |
Am J Respir Crit Care Med |
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Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease |
European Respiratory Journal |
2021 |
34762809 |
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Whole Genome Sequence Analysis of the Plasma Proteome in Black Individuals |
Circulation |
2021 |
34814699 |
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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 |
Stroke |
2021 |
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Type 2 immune development depends on MARCH1-mediated turnover of MHCII and CD86 by lymph node resident dendritic cells |
Nature Immunology |
2021 |
34652961 |
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Association of mitochondrial DNA copy number with cardiometabolic diseases |
European Heart Journal |
2021 |
35036986 |
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Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits |
American Journal of Human Genetics |
2021 |
34582791 |
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A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response |
Nature Genetics |
2021 |
34611364 |
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Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine Initiative |
Human Molecular Genetics |
2021 |
34553764 |
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ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing |
Nature Genetics |
2021 |
34568833 |
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program |
Nature Genetics |
2021 |
34446064 |
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Epigenome-wide association study of mitochondrial genome copy number |
Human Molecular Genetics |
2021 |
34415308 |
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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 |
2021 |
34319147 |
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Population sequencing data reveal a compendium of mutational processes in the human germ line |
Science |
2021 |
34385354 |
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Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry |
Mitochondrion |
2021 |
34303007 |
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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 |
Human Genetics and Genomics Advances |
2021 |
34337551 |
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Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations |
Genes |
2021 |
34356065 |
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Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure |
Journal of the American College of Cardiology |
2021 |
34210413 |
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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 |
PLOS One |
2021 |
34214102 |
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging |
Genome Biology |
2021 |
34187551 |
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Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies |
Briefings in Bioinformatics |
2021 |
34015820 |
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Clonal hematopoiesis associated with epigenetic aging and clinical outcomes |
Aging Cell |
2021 |
34050697 |
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Genome Sequencing Unveils a Regulatory Landscape of Platelet Reactivity |
Nature Communications |
2021 |
34131117 |
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Variant-specific inflation factors for assessing population stratification at the phenotypic variance level |
Nature Communications |
2021 |
34108454 |
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Identification of putative causal loci in whole-genome sequencing data via knockoff statistics |
Nature Communications |
2021 |
34035245 |
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Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci |
Genome Medicine |
2021 |
33931109 |
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Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants |
ATVB |
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33910371 |
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Novel recessive locus for body mass index in childhood asthma |
Thorax |
2021 |
33888571 |
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Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium |
Genome Medicine |
2021 |
33883027 |
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program |
American Journal of Human Genetics |
2021 |
33887194 |
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A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program |
American Journal of Epidemiology |
2021 |
33861317 |
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices |
Nature Communications |
2021 |
33846329 |
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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries |
Genetics |
2021 |
33720349 |
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Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative. |
JAHA |
2021 |
33619969 |
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The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians |
PLOS Genetics |
2021 |
33571193 |
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program |
Nature |
2021 |
33568819 |
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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 |
EBioMedicine |
2021 |
33418499 |
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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 |
Journal of the American Heart Association |
2020 |
33372532 |
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A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests |
Bioinformatics |
2020 |
33367522 |
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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease |
Nature Communications |
2020 |
33339817 |
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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 |
2020 |
33268503 |
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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 |
PLOS ONE |
2020 |
33237978 |
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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 |
TRANSFUSION |
2020 |
33231305 |
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Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women |
Circulation |
2020 |
33161765 |
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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder |
American Journal of Medical Genetics Part A |
2020 |
33112498 |
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Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing |
Blood |
2020 |
33094331 |
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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants |
Nature Communications |
2020 |
33057025 |
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes |
Nature |
2020 |
33057201 |
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Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium |
Nature Communications |
2020 |
33046696 |
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Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs |
Genome Medicine |
2020 |
32988399 |
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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 |
32966749 |
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Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women |
Alzheimer’s & Dementia |
2020 |
32966694 |
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An interaction of the 17q12-21 locus with mold exposure in childhood asthma |
Pediatric Allergy and Immunology |
2020 |
32946604 |
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locStra: Fast analysis of regional/global stratification in whole genome sequencing (WGS) studies |
Genetic Epidemiology |
2020 |
32929743 |
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Transcriptomic signatures across human tissues identify functional rare genetic variation |
Science |
2020 |
32913073 |
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Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations |
Genetic Epidemiology |
2020 |
32519380 |
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A Novel Locus for Exertional Dyspnea in Childhood Asthma |
European Respiratory Journal |
2020 |
32855217 |
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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 |
2020 |
32839606 |
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Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways |
Journal of Allergy and Clinical Immunology |
2020 |
32795586 |
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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 |
32600054 |
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Population-Specific Recombination Maps from Segments of Identity by Descent |
American Journal of Human Genetics |
2020 |
32533945 |
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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 |
32459537 |
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Comparison of Proteomic Assessment Methods in Multiple Cohort Studies |
Proteomics |
2020 |
32386347 |
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Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy |
Nature Communications |
2020 |
32382064 |
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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 |
32291332 |
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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 |
32141793 |
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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 |
31985870 |
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Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci |
Nature Genetics |
2020 |
32066938 |
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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 |
2020 |
31964835 |
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Haplotype-aware graph indexes |
Bioinformatics |
2020 |
31406990 |
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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 |
2020 |
31932420 |
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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 |
31883642 |
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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 |
31869403 |
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Genetic association testing using the GENESIS R/Bioconductor package |
Bioinformatics |
2019 |
31329242 |
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A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. |
Genetic Epidemiology |
2019 |
31713269 |
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Rare Genetic Variants Associated With Sudden Cardiac Death in Adults |
Journal of the American College of Cardiology |
2019 |
31727422 |
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Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico |
Pediatric Pulmonology |
2019 |
31665830 |
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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 |
2019 |
31668705 |
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Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent |
American Journal of Human Genetics |
2019 |
31587867 |
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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 |
2019 |
31564435 |
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Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma |
Chest |
2019 |
31557467 |
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Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity |
American Journal of Human Genetics |
2019 |
31543216 |
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Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. |
Circulation |
2019 |
30586733 |
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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 |
2019 |
30863429 |
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Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans |
Human Molecular Genetics |
2019 |
30307499 |
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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 |
2019 |
30671673 |
|
A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies |
Genetic Epidemiology |
2019 |
30653739 |
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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 |
2019 |
30639324 |
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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 |
30535219 |
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Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease |
American Journal of Respiratory and Critical Care Medicine |
2018 |
29949718 |
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An APOO pseudogene on chromosome 5q regulates LDL-C levels |
Circulation |
2018 |
29593015 |
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals |
Nature Communications |
2018 |
30140000 |
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries |
Nature Communications |
2018 |
29973585 |
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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 |
|
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 |
|
Genotypes, Phenotypes and Whole Genome Sequence: Approaches From the My Life Our Future Haemophilia Project |
Haemophilia |
2018 |
29878652 |
|
A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans |
Blood |
2018 |
29764838 |
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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease |
PLOS Genetics |
2018 |
29590102 |
|
An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. |
Journal of Lipid Research |
2018 |
29463568 |
|
Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes |
Human Genetics |
2018 |
29423652 |
|
Whole genome sequence analyses of brain imaging measures in the Framingham Study |
Neurology |
2017 |
29282330 |
|
Tonicity-Responsive Enhancer-Binding Protein Mediates Hyperglycemia-Induced Inflammation and Vascular and Renal Injury |
Journal of the American Society of Nephrology |
2017 |
29158465 |
|
Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology |
Nature Genetics |
2017 |
29074945 |
|
D-dimer in African Americans: Whole Genome Sequence Analysis and Relationship to CVD Risk in the Jackson Heart Study |
Arteriosclerosis, Thrombosis, and Vascular Biology |
2017 |
28912365 |
