Publications

Contents



Publications

Title Journal Name Publication Date PMID
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
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
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
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
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
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
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
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
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
Presence and Transmission of Mitochondrial Heteroplasmic Mutations in European and African Ancestry Populations 2020 https://doi.org/10.1101/2020.10.13.337071
Genome-wide association studies identify 137 loci for DNA methylation biomarkers of aging 2020 10.1101/2020.06.29.133702
Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries 2020 10.1101/2020.06.23.167759
A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program 2020 10.1101/2020.06.18.146423
Mechanisms Linking Blood Type, Blood Proteins, and COVID-19: Insights from Black and White Populations 2020 10.1101/2020.06.09.20125690
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians 2020 10.1101/2020.05.18.102996v1
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
Type 2 and Interferon inflammation strongly regulates SARS-CoV-2 related gene expression in the airway epithelium 2020 10.1101/2020.04.09.034454
Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs 2020 10.1101/673293
Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies 2020 10.1101/2020.03.03.973420
Analysis of cardiac magnetic resonance imaging traits in 36,000 individuals reveals shared genetic basis with dilated cardiomyopathy 2020 10.1101/2020.02.12.946038v1
Population sequencing data reveal a compendium of mutational processes in human germline 2020 10.1101/2020.01.10.893024v1
An exact, unifying framework for region-based association testing in family-based designs, including higher criticism approaches, SKATs, multivariate and burden tests 2019 10.1101/815290v1
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
Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity 2019 10.1101/621565v1
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease 2019 10.1101/597377v1
Recovery of trait heritability from whole genome sequence data 2019 10.1101/588020v1
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program 2019 10.1101/563866v1
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