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TOPMed

Preprints

Preprints
Submitting Author Title Preprint Date Sort ascending Preprint DOI
Hu, Yao Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program 2020 10.1101/2020.12.09.20246736
Smail, Craig Integration of rare expression outlier-associated variants improves polygenic risk prediction 2020 10.1101/2020.12.02.20242990
Saferali, Aabida Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing 2020 10.1101/2020.10.20.20203927
Lettre, Guillaume find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences 2020 10.1101/2020.11.23.394296
Wessel, Jennifer Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes 2020
Lappalainen, Tuuli Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium 2020 10.1101/2020.10.01.20202820
Liu, Chunyu Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry 2020 https://doi.org/10.1101/2020.10.13.337071
Liu, Chunyu Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs 2020
Katz, Daniel H Mechanisms Linking Blood Type, Blood Proteins, and COVID-19: Insights from Black and White Populations 2020 10.1101/2020.06.09.20125690
Luo, Yang A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response 2020 10.1101/2020.07.16.20155606
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