|
Assessing the Contribution of Rare Genetic Variants to Phenotypes of Chronic Obstructive Pulmonary Disease Using Whole-Genome Sequencing Data |
Hum Mol Genet. |
2022 |
35766891 |
|
A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood |
Nat Commun. |
2022 |
35729114 |
|
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
J. Exp. Med. |
2022 |
35442418 |
|
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension |
Hypertension |
2022 |
35652341 |
|
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data |
NAR Genom Bioinform |
2022 |
35591888 |
|
Accounting for population structure in genetic studies of cystic fibrosis |
Human Genetics and Genomic Advances |
2022 |
35647563 |
|
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations |
Frontiers in Endocrinology |
2022 |
35592775 |
|
Lymphocyte activation gene-3-associated protein networks are associated with HDL-cholesterol and mortality in the Trans-omics for Precision Medicine program |
Commun Biol |
2022 |
35501457 |
|
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data |
American Journal of Human Genetics |
2022 |
35504290 |
|
Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis |
Respir Res |
2022 |
35449067 |
|
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential |
Science Advances |
2022 |
35385311 |
|
Monogenic and Polygenic Contributions to QTc Prolongation in the Population |
Circulation |
2022 |
35389749 |
|
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 |
2022 |
35385699 |
|
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology |
Nat Commun |
2022 |
35347136 |
|
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data |
Nature |
2022 |
35256806 |
|
Clonal Hematopoiesis Is Associated With Higher Risk of Stroke |
Stroke |
2022 |
34743536 |
|
Protein prediction for trait mapping in diverse populations |
PLoS One |
2022 |
35202437 |
|
Rare Genetic Variants Associated with Myocardial Fibrosis; Multi-Ethnic Study of Atherosclerosis (MESA) |
Frontiers in Cardiovascular Medicine |
2022 |
35265679 |
|
Rare coding variants in RCN3 are associated with blood pressure |
BMC Genomics |
2022 |
35183128 |
|
Metabolomic Analysis of Coronary Heart Disease in an African American Cohort From the Jackson Heart Study |
JAMA |
2022 |
34851361 |
|
Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based mendelian randomization study |
Sci Rep |
2022 |
35087136 |
|
Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease |
Blood |
2022 |
34855941 |
|
Epigenome-wide association study of lung function in Latino children and youth with asthma |
Clinical Epigenetics |
2022 |
35033200 |
|
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed |
Cell Genom |
2022 |
35530816 |
|
CFTR variants are associated with chronic bronchitis in smokers |
European Respiratory Journal |
2022 |
34996830 |
|
Clonal hematopoiesis in sickle cell disease |
Nature Medicine |
2022 |
34990411 |
|
Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes |
Cell Genomics |
2022 |
34932938 |
|
A smoothed version of the Lassosum penalty for fitting integrated risk models |
Genes (Basel) |
2022 |
35052450 |
|
Associations between DNA methylation and BMI vary by metabolic health status: a potential link to disparate cardiovascular outcomes |
Clin Epigenetics |
2021 |
34937574 |
|
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes |
Science |
2021 |
34914532 |
|
eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data |
AJHG |
2021 |
34882196 |
|
Diet Quality Scores are Positively Associated with Whole Blood-derived Mitochondrial DNA Copy Number in the Framingham Heart Study |
journal of nutrition |
2022 |
34875096 |
|
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen |
Nature |
2021 |
34855475 |
|
Multiethnic genome-wide and HLA association study of total serum IgE level |
Journal of Allergy and Clinical Immunology |
2021 |
34536413 |
|
Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults |
Circ Genom Precis Med |
2021 |
34706549 |
|
Metabo-Endotypes of Asthma Reveal Clinically Important Differences in Lung Function: Discovery and validation in two TOPMed Cohorts |
Am J Respir Crit Care Med |
2021 |
34767496 |
|
Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease |
European Respiratory Journal |
2021 |
34762809 |
|
Whole Genome Sequence Analysis of the Plasma Proteome in Black Individuals |
Circulation |
2021 |
34814699 |
|
Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project |
Stroke |
2021 |
34727735 |
|
Type 2 immune development depends on MARCH1-mediated turnover of MHCII and CD86 by lymph node resident dendritic cells |
Nature Immunology |
2021 |
34652961 |
|
Association of mitochondrial DNA copy number with cardiometabolic diseases |
European Heart Journal |
2021 |
35036986 |
|
Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits |
American Journal of Human Genetics |
2021 |
34582791 |
|
A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response |
Nature Genetics |
2021 |
34611364 |
|
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine Initiative |
Human Molecular Genetics |
2021 |
34553764 |
|
ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing |
Nature Genetics |
2021 |
34568833 |
|
Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program |
Nature Genetics |
2021 |
34446064 |
|
Epigenome-wide association study of mitochondrial genome copy number |
Human Molecular Genetics |
2021 |
34415308 |
|
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis |
Circulation: Genomic and Precision Medicine |
2021 |
34319147 |
|
Population sequencing data reveal a compendium of mutational processes in the human germ line |
Science |
2021 |
34385354 |
|
Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry |
Mitochondrion |
2021 |
34303007 |
|
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 |
|
Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations |
Genes |
2021 |
34356065 |
|
Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure |
Journal of the American College of Cardiology |
2021 |
34210413 |
|
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 |
|
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging |
Genome Biology |
2021 |
34187551 |
|
Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies |
Briefings in Bioinformatics |
2021 |
34015820 |
|
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes |
Aging Cell |
2021 |
34050697 |
|
Genome Sequencing Unveils a Regulatory Landscape of Platelet Reactivity |
Nature Communications |
2021 |
34131117 |
|
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level |
Nature Communications |
2021 |
34108454 |
|
Identification of putative causal loci in whole-genome sequencing data via knockoff statistics |
Nature Communications |
2021 |
34035245 |
|
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci |
Genome Medicine |
2021 |
33931109 |
|
Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants |
ATVB |
2021 |
33910371 |
|
Novel recessive locus for body mass index in childhood asthma |
Thorax |
2021 |
33888571 |
|
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium |
Genome Medicine |
2021 |
33883027 |
|
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program |
American Journal of Human Genetics |
2021 |
33887194 |
|
A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program |
American Journal of Epidemiology |
2021 |
33861317 |
|
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices |
Nature Communications |
2021 |
33846329 |
|
Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries |
Genetics |
2021 |
33720349 |
|
Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative. |
JAHA |
2021 |
33619969 |
|
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians |
PLOS Genetics |
2021 |
33571193 |
|
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program |
Nature |
2021 |
33568819 |
|
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 |
|
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 |
|
A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests |
Bioinformatics |
2020 |
33367522 |
|
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease |
Nature Communications |
2020 |
33339817 |
|
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 |
|
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 |
|
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 |
|
Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women |
Circulation |
2020 |
33161765 |
|
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder |
American Journal of Medical Genetics Part A |
2020 |
33112498 |
|
Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing |
Blood |
2020 |
33094331 |
|
Inherited causes of clonal haematopoiesis in 97,691 whole genomes |
Nature |
2020 |
33057201 |
|
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants |
Nature Communications |
2020 |
33057025 |
|
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium |
Nature Communications |
2020 |
33046696 |
|
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs |
Genome Medicine |
2020 |
32988399 |
|
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 |
|
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women |
Alzheimer’s & Dementia |
2020 |
32966694 |
|
An interaction of the 17q12-21 locus with mold exposure in childhood asthma |
Pediatric Allergy and Immunology |
2020 |
32946604 |
|
locStra: Fast analysis of regional/global stratification in whole genome sequencing (WGS) studies |
Genetic Epidemiology |
2020 |
32929743 |
|
Transcriptomic signatures across human tissues identify functional rare genetic variation |
Science |
2020 |
32913073 |
|
Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations |
Genetic Epidemiology |
2020 |
32519380 |
|
A Novel Locus for Exertional Dyspnea in Childhood Asthma |
European Respiratory Journal |
2020 |
32855217 |
|
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 |
|
Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways |
Journal of Allergy and Clinical Immunology |
2020 |
32795586 |
|
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 |
|
Population-Specific Recombination Maps from Segments of Identity by Descent |
American Journal of Human Genetics |
2020 |
32533945 |
|
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 |
|
Comparison of Proteomic Assessment Methods in Multiple Cohort Studies |
Proteomics |
2020 |
32386347 |
|
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy |
Nature Communications |
2020 |
32382064 |
|
Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma |
Genetics |
2020 |
32327564 |
|
Evolutionary History of Modern Samoans |
Proceedings of the National Academy of Sciences |
2020 |
32291332 |
|
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 |
|
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 |
|
Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci |
Nature Genetics |
2020 |
32066938 |
|
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 |
|
Haplotype-aware graph indexes |
Bioinformatics |
2020 |
31406990 |
|
HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma |
Proceedings of the National Academy of Sciences of the United States of America |
2020 |
31932420 |
|
Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts |
American Journal of Human Genetics |
2019 |
31883642 |
|
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 |
|
Genetic association testing using the GENESIS R/Bioconductor package |
Bioinformatics |
2019 |
31329242 |
|
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults |
Journal of the American College of Cardiology |
2019 |
31727422 |
|
A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. |
Genetic Epidemiology |
2019 |
31713269 |
|
Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico |
Pediatric Pulmonology |
2019 |
31665830 |
|
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. |
American Journal of Human Genetics |
2019 |
31668705 |
|
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent |
American Journal of Human Genetics |
2019 |
31587867 |
|
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 |
|
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma |
Chest |
2019 |
31557467 |
|
Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity |
American Journal of Human Genetics |
2019 |
31543216 |
|
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. |
Circulation |
2019 |
30586733 |
|
An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. |
Frontiers in Genetics |
2019 |
30863429 |
|
Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans |
Human Molecular Genetics |
2019 |
30307499 |
|
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 |
|
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 |
|
Association between titin loss-of-function variants and early-onset atrial fibrillation. |
JAMA: The Journal of the American Medical Association |
2018 |
30535219 |
|
Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease |
American Journal of Respiratory and Critical Care Medicine |
2018 |
29949718 |
|
An APOO pseudogene on chromosome 5q regulates LDL-C levels |
Circulation |
2018 |
29593015 |
|
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals |
Nature Communications |
2018 |
30140000 |
|
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries |
Nature Communications |
2018 |
29973585 |
|
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 |
|
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 |
