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TOPMed

Publications

Submitting Author Title Journal Name Publication Date PMID Associated Proposal ID(s)
Raffield, Laura Comparison of Proteomic Assessment Methods in Multiple Cohort Studies Proteomics 32386347 7197
Jaiswal, Sidd Clonal hematopoiesis associated with epigenetic aging and clinical outcomes Aging Cell 34050697 6786
Li, Yun eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data AJHG 34882196 9720
Cho, Michael A unified knockoff framework for gene-based testing with joint analysis of coding and regulatory variation AJHG 34799441 10964
Wheeler, Heather Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits AJHG 38320554 13310
Blue, Elizabeth Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women Alzheimer’s & Dementia 32966694 6086
Smail, Craig Integration of rare expression outlier-associated variants improves polygenic risk prediction Am J Hum Genet 35588732 10748
Auer, Paul Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood Am J Hum Genet. 39809269 16075
Robinson-Cohen, Cassianne Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population Am J Kidney Dis. 36241009 4698
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
Zhu, Xiaofeng Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea Am J Respir Crit Care Med. 35822943 7616
Manichaikul, Ani Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis Am J Respir Crit Care Med. 35536696 5951
Yun, Jeong Clonal Somatic Mutations in Chronic Lung Diseases Are Associated with Reduced Lung Function Am J Respir Crit Care Med. 37788444 13056
Peljto, Anna Louise Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants Am J Respir Crit Care Med. 36602845 14375
Stilp, Adrienne A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program American Journal of Epidemiology 33861317 8222
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
Browning, Brian Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent American Journal of Human Genetics 31587867
Hanks, Sarah Extent to which array genotyping and imputation with large reference panels approximates deep whole genome sequencing American Journal of Human Genetics 35981533 7193
Auer, Paul Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts American Journal of Human Genetics 31883642 6684
Sofer, Tamar Social and scientific motivations to move beyond groups in allele frequencies: the TOPMed experience American Journal of Human Genetics 36055210 13483
Browning, Sharon Population-Specific Recombination Maps from Segments of Identity by Descent American Journal of Human Genetics 32533945
Auer, Paul TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data American Journal of Human Genetics 35504290 10711
Patel, Roshni Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits American Journal of Human Genetics 35716666 10194
Szpiech, Zachary Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity American Journal of Human Genetics 31543216 5126
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
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
Wang, Yuxuan Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study American Journal of Human Genetics 37802043 13704
Kasela, Silva Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects American Journal of Human Genetics 38181730 5508
Auer, Paul Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits American Journal of Human Genetics 34582791 1086
Hu, Yao Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program American Journal of Human Genetics 33887194 1084
Manichaikul, Ani 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 35385699 4649
Minster, Ryan L ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder American Journal of Medical Genetics Part A 33112498 9719
Silverman, Edwin Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease American Journal of Respiratory and Critical Care Medicine 29949718 249
Williams, L. Keoki Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans American Journal of Respiratory and Critical Care Medicine 32966749 9171
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
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
Manichaikul, Ani Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts Annals of the American Thoracic Society 37351609 7221
Kim, John Genomic and Serological Rheumatoid Arthritis Biomarkers, MUC5B Promoter Variant, and Interstitial Lung Abnormalities Annals of the American Thoracic Society 39405163 13519
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
Stanislawski, Maggie Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants ATVB 33910371 10320
Hecker, Julian A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests Bioinformatics 33367522 7883
Paten, Benedict Haplotype-aware graph indexes Bioinformatics 31406990 4548
Gogarten, Stephanie Genetic association testing using the GENESIS R/Bioconductor package Bioinformatics 31329242 5470
Huffman, Jennifer Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles Blood 39226462 10430
Cho, Michael Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease Blood 34855941 6641
Taub, Margaret Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing Blood 33094331 927
Hu, Yao A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans Blood 29764838 3320
de Vries, Paul A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels Blood 38320121 3158
Ryu, Min Hyung Computational Deconvolution of Cell Type-Specific Gene Expression in COPD and IPF Lungs Reveals Disease Severity Associations BMC Genomics 39695952 18261
Zhu, Xiaofeng Rare coding variants in RCN3 are associated with blood pressure BMC Genomics 35183128 4868
241 Publications
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