TOPMed
Publications
| Submitting Author | Title Sort descending | Journal Name | Publication Date | PMID |
|---|---|---|---|---|
| Lubitz, Steven | Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis | Circulation: Genomic and Precision Medicine | 34319147 | |
| Manichaikul, Ani | Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants | Nature Communications | 33057025 | |
| Battle, Stephanie | A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data | NAR Genom Bioinform | 35591888 | |
| Hu, Yao | A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans | Blood | 29764838 | |
| Li, Zilin | A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies | Nat Methods | 36303018 | |
| Sofer, Tamar | A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies | Genetic Epidemiology | 30653739 | |
| de Vries, Paul | A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels | Blood | 38320121 | |
| Sun, Quan | A genome-wide association study of alloimmunization in the TOPMed OMG-SCD cohort identifies a locus on chromosome 12 | Transfusion | 38966903 | |
| Luo, Yang | A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response | Nature Genetics | 34611364 | |
| Minster, Ryan L | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes | J. Exp. Med. | 35442418 |
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