Publications

Contents



Publications

Title Journal Name Publication Date PMID
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
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
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes Aging Cell 2021 34050697
Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies Briefings in Bioinformatics 2021 34015820
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
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
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants Nature Communications 2020 33057025
Inherited causes of clonal haematopoiesis in 97,691 whole genomes Nature 2020 33057201
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
Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture 2021 10.1101/2021.08.19.456901
Protein prediction for trait mapping in diverse populations 2021 10.1101/2021.08.11.455912
Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit 2021 10.1101/2020.12.04.412486
Integration of rare, large-effect expression variants improves polygenic risk prediction 2020 10.1101/2020.12.02.20242990
eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data 2020 10.1101/2020.11.30.405266
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 coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes 2020 10.1101/2020.12.22.423783
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
A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response 2020 10.1101/2020.07.16.20155606
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
Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries 2020 10.1101/2020.04.20.20016337
Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed 2019 10.1101/749010v1
Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen 2019 10.1101/721704v1
Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program 2019 10.1101/652966v1
Recovery of trait heritability from whole genome sequence data 2019 10.1101/588020v1
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