Publications

Contents



Publications

Title Journal Name Publication Date PMID
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
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Preprints

Title Preprint date Preprint DOI
Clonal hematopoiesis and risk of chronic liver disease 2022 10.1101/2022.01.17.22269409
Assessing the pathogenicity and penetrance of Mendelian sleep disorder genes 2022 10.1101/2022.01.04.21268199
Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program 2021 medRxiv
Clonal hematopoiesis is associated with protection from Alzheimer’s disease 2021 10.1101/2021.12.10.21267552
Clonal hematopoiesis is driven by aberrant activation of TCL1A 2021 10.1101/2021.12.10.471810
Effect sizes of causal variants for gene expression and complex traits differ between populations 2021 bioRxiv
A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies 2021 bioRxiv
Expanding the pool of public controls for GWAS via a method for combining genotypes from arrays and sequencing 2021 bioRxiv
Whole genome sequence analysis of blood lipid levels in >66,000 individuals 2021 bioRxiv
A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity 2021 medRxiv
Genetic and environmental correlations between complex phenotypes differ by race/ethnicity and sex 2021 medRxiv
Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Gene 2021 medRxiv
Guidelines on the use and reporting of race, ethnicity, and ancestry in genetic research: experiences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program 2021 arXiv:2108.07858v1
Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture 2021 10.1101/2021.08.19.456901
Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes 2021 10.1101/2021.07.09.21260288
Genetic architecture of smoking: Evaluating rare variant contribution from deep whole-genome sequencing of up to 26,000 individuals 2021 10.21203/rs.3.rs-475149/v1
Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program 2021 medrxiv
Integration of rare, large-effect expression variants improves polygenic risk prediction 2020 10.1101/2020.12.02.20242990
find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences 2020 10.1101/2020.11.23.394296
Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes 2020 10.1101/2020.11.13.20221812
Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing 2020 10.1101/2020.10.20.20203927
Systemic biomarkers of lung function and FEV1 decline across multiple cohorts 2020 The Lancet
Mechanisms Linking Blood Type, Blood Proteins, and COVID-19: Insights from Black and White Populations 2020 10.1101/2020.06.09.20125690
Rare variant enriched identity-by-descent enables the detection of distant relatedness and older divergence between populations 2020 10.1101/2020.05.05.079541
Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes 2020 10.1101/2020.05.02.074096
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