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TOPMed

Publications

Submitting Author Title Journal Name Publication Date Sort ascending PMID Associated proposal ID(s)
Battle, Stephanie A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data NAR Genom Bioinform 35591888 3129
Sofer, Tamar A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood Nat Commun. 35729114 12138
Wheeler, Marsha Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program Nat Commun. 36481753 12031
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
Kim, Wonji Assessing the Contribution of Rare Genetic Variants to Phenotypes of Chronic Obstructive Pulmonary Disease Using Whole-Genome Sequencing Data Hum Mol Genet. 35766891 9053
Shabani, Mahsima Rare Genetic Variants Associated with Myocardial Fibrosis; Multi-Ethnic Study of Atherosclerosis (MESA) Frontiers in Cardiovascular Medicine 35265679 9631
Page, Grier GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing Commun Biol 35953715 10064
Li, Zilin A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies Nat Methods 36303018 9924
Kelly, Tanika Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease Hum Mol Genet. 36444934 11127
Bhattacharya, Romit Clonal Hematopoiesis Is Associated With Higher Risk of Stroke Stroke 34743536 7859
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