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TOPMed

Publications

Submitting Author Title Journal Name Publication Date PMID Associated Proposal ID(s)
Hahn, Georg A smoothed version of the Lassosum penalty for fitting integrated risk models Genes (Basel) 35052450 12851
Elgart, Michael Correlations between complex human phenotypes vary by genetic background, gender, and environment Cell Rep Med. 36513073 11686
Lubitz, Steven Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes Nat Commun. 36042188 8472
Pino-Yanes, Maria Epigenome-wide association study of lung function in Latino children and youth with asthma Clinical Epigenetics 35033200 12286
Mak, Angel CY Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology Nat Commun 35347136 12786
Sofer, Tamar The impact of Mendelian sleep and circadian genetic variants in a population setting PLoS Genetics 36137075 8507
Wang, Heming Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based mendelian randomization study Sci Rep 35087136 11774
Manichaikul, Ani Protein prediction for trait mapping in diverse populations PLoS One 35202437 12929
Sofer, Tamar Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations Commun Biol. 35995843 11732
Kim, John MUC5B, telomere length and longitudinal quantitative interstitial lung changes: the MESA Lung Study Thorax 36690926 11135
Khan, Alyna Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program Cell Genomics 36119389 9937
Sankaran, Vijay G. Clonal hematopoiesis in sickle cell disease Nature Medicine 34990411 9168
Saferali, Aabida CFTR variants are associated with chronic bronchitis in smokers European Respiratory Journal 34996830 6712
Nauffal, Victor Monogenic and Polygenic Contributions to QTc Prolongation in the Population Circulation 35389749 6863
Jang, Seonkyeong Rare genetic variants explain missing heritability in smoking Nature Human Behaviour 35927319 10589
Manichaikul, Ani Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis Am J Respir Crit Care Med. 35536696 5951
Ghosh, Auyon Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis Respir Res 35449067 9115
Nakao, Tetsushi Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential Science Advances 35385311 8291
Zhu, Xiaofeng Rare coding variants in RCN3 are associated with blood pressure BMC Genomics 35183128 4868
Wessel, Jennifer Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program Commun Biol. 35902682 1229
Peloso, Gina Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes Cell Genomics 34932938 3839
Smail, Craig Integration of rare expression outlier-associated variants improves polygenic risk prediction Am J Hum Genet 35588732 10748
Rodriguez, Annabelle Lymphocyte activation gene-3-associated protein networks are associated with HDL-cholesterol and mortality in the Trans-omics for Precision Medicine program Commun Biol 35501457 5136
Cho, Michael Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease Blood 34855941 6641
Hu, Jie Differences in Metabolomic Profiles Between Black and White Women and Risk of Coronary Heart Disease: an Observational Study of Women From Four US Cohorts Circ Res. 36052690 10106
Kelly, Tanika Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension Hypertension 35652341 1409
Mathias, Rasika Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed Cell Genom 35530816 2251
Visscher, Peter Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data Nat Genet. 35256806 3235
Franceschini, Nora Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci Genome Medicine 33931109 8404
Justice, Anne Associations between DNA methylation and BMI vary by metabolic health status: a potential link to disparate cardiovascular outcomes Clin Epigenetics 34937574 11924
Raffield, Laura Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine Initiative Human Molecular Genetics 34553764 1085
Ghosh, Auyon Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease European Respiratory Journal 34762809 7406
Cho, Michael Alternative poly-adenylation modulates α1-anti-trypsin expression in chronic obstructive pulmonary disease PLOS Genetics 34784346 10751
Li, Yun Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations Genes 34356065 5026
Daya, Michelle Multiethnic genome-wide and HLA association study of total serum IgE level Journal of Allergy and Clinical Immunology 34536413 1851
Auer, Paul Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits American Journal of Human Genetics 34582791 1086
Liu, Chunyu Epigenome-wide association study of mitochondrial genome copy number Human Molecular Genetics 34415308 11850
Haring, Bernhard Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative. JAHA 33619969 4766
Kelly, Rachel S. Metabo-Endotypes of Asthma Reveal Clinically Important Differences in Lung Function: Discovery and validation in two TOPMed Cohorts Am J Respir Crit Care Med 34767496 7736
Yu, Bing Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure Journal of the American College of Cardiology 34210413 7383
Sofer, Tamar Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies Briefings in Bioinformatics 34015820 7617
Paten, Benedict Pangenomics enables genotyping of known structural variants in 5202 diverse genomes Science 34914532 11019
Mak, Angel CY Type 2 immune development depends on MARCH1-mediated turnover of MHCII and CD86 by lymph node resident dendritic cells Nature Immunology 34652961 5937
Katz, Daniel H Whole Genome Sequence Analysis of the Plasma Proteome in Black Individuals Circulation 34814699 8977
Cho, Michael A unified knockoff framework for gene-based testing with joint analysis of coding and regulatory variation AJHG 34799441 10964
Sofer, Tamar 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 34337551 4549
Raffield, Laura Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults Circ Genom Precis Med 34706549 10325
Li, Yun eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data AJHG 34882196 9720
Stanislawski, Maggie Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants ATVB 33910371 10320
Jaiswal, Sidd ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing Nature Genetics 34568833 10536
241 Publications
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