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TOPMed

Publications

Submitting Author Title Journal Name Publication Date PMID Associated Proposal ID(s)
Williams, L. Keoki 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 33237978 6618
Mak, Angel CY Whole Genome Sequencing Identifies Novel Functional Loci Associated With Lung Function in Puerto Rican Youth American Journal of Respiratory and Critical Care Medicine 32459537 9022
Pezant, Nathan Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans Ocular Immunology and Inflammation 32141793 2644
Pirruccello, James Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy Nature Communications 32382064 7846
Mak, Angel CY Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma Genetics 32327564 1274
Bick, Alexander Inherited causes of clonal haematopoiesis in 97,691 whole genomes Nature 33057201 3551
Gutierrez-Arcelus, Maria Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci Nature Genetics 32066938 7188
Raffield, Laura Comparison of Proteomic Assessment Methods in Multiple Cohort Studies Proteomics 32386347 7197
Raffield, Laura Coagulation factor VIII: Relationship to Cardiovascular Disease Risk and Whole Genome Sequence and Epigenome-Wide Analysis in African Americans Journal of Thrombosis and Haemostasis 31985870 6894
Li, Xihao Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale Nature Genetics 32839606 4696
Manichaikul, Ani Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants Nature Communications 33057025 7377
Willer, Cristen Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease Nature Communications 33339817 6213
O'Connor, Tim 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 31964835 6274
O'Connor, Tim Evolutionary History of Modern Samoans Proceedings of the National Academy of Sciences 32291332 5164
Quick, Corbin Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations Genetic Epidemiology 32519380 1205
Browning, Brian Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent American Journal of Human Genetics 31587867
Khera, Amit Rare Genetic Variants Associated With Sudden Cardiac Death in Adults Journal of the American College of Cardiology 31727422 2568
Cho, Michael A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. Genetic Epidemiology 31713269
Geng, Xin An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. Frontiers in Genetics 30863429 2275
Khera, Amit V. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 30586733 1440
Auer, Paul Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts American Journal of Human Genetics 31883642 6684
Mak, Angel CY Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico Pediatric Pulmonology 31665830 6628
Li, Yun 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 31869403 4355
Sarnowski, Chloé 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 31564435 1398
Gogarten, Stephanie Genetic association testing using the GENESIS R/Bioconductor package Bioinformatics 31329242 5470
Weiss, Scott Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma Chest 31557467 270
Szpiech, Zachary Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity American Journal of Human Genetics 31543216 5126
Zhu, Xiaofeng Leveraging linkage evidence to identify low frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data Human Genetics 30671673 4848
Zhu, Xiaofeng Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. American Journal of Human Genetics 31668705 1925
Auer, Paul Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans Human Molecular Genetics 30307499 3775
Chen, Han Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies American Journal of Human Genetics 30639324 3922
Sofer, Tamar A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies Genetic Epidemiology 30653739 3419
Johnsen, Jill Genotypes, Phenotypes and Whole Genome Sequence: Approaches From the My Life Our Future Haemophilia Project Haemophilia 29878652 1965
Geng, Xin An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. Journal of Lipid Research 29463568 2275
Liu, Chunyu Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes Human Genetics 29423652 4989
Hu, Yao A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans Blood 29764838 3320
Mitchell, Braxton An APOO pseudogene on chromosome 5q regulates LDL-C levels Circulation 29593015 520
Silverman, Edwin Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease American Journal of Respiratory and Critical Care Medicine 29949718 249
Natarajan, Pradeep Deep-coverage whole genome sequences and blood lipids among 16,324 individuals Nature Communications 30140000 1169
Wheeler, Marsha Genomic characterization of the RH locus detects common, complex and novel structural variation in two multi-ethnic cohorts Nature Genetics in Medicine 29955105 3300
Natarajan, Pradeep Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries Nature Communications 29973585 3007
Ellinor, Patrick Association between titin loss-of-function variants and early-onset atrial fibrillation. JAMA: The Journal of the American Medical Association 30535219 2254
Oh, Sam Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma American Journal of Respiratory and Critical Care Medicine 29509491 253
Reiner, Alex Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease PLOS Genetics 29590102 1185
Parsa, Afshin Tonicity-Responsive Enhancer-Binding Protein Mediates Hyperglycemia-Induced Inflammation and Vascular and Renal Injury Journal of the American Society of Nephrology 29158465 1996
Sarnowski, Chloe Whole genome sequence analyses of brain imaging measures in the Framingham Study Neurology 29282330 1167
Raffield, Laura D-dimer in African Americans: Whole Genome Sequence Analysis and Relationship to CVD Risk in the Jackson Heart Study Arteriosclerosis, Thrombosis, and Vascular Biology 28912365 259
Brody, Jennifer Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology Nature Genetics 29074945 1421
248 Publications
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