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TOPMed

Preprints

Preprints
Submitting Author Title Preprint Date Sort ascending Preprint DOI
Paten, Benedict Pangenomics enables genotyping of known structural variants in 5202 diverse genomes 2021 10.1101/2020.12.04.412486
Nakao, Tetsushi Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential 2021 medRxiv
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 2021 10.1101/2021.01.08.21249450
Wessel, Jennifer Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program 2021 medrxiv
Cho, Michael Identification of putative causal loci in whole-genome sequencing data via knockoff statistics 2021 10.1101/2021.03.08.434451
Franceschini, Nora Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium 2021 10.1016/j.ebiom.2020.103157
Franceschini, Nora Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium 2021 10.1016/j.ebiom.2020.103157
Li, Yun eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data 2020 10.1101/2020.11.30.405266
Peloso, Gina Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes 2020 10.1101/2020.12.22.423783
Hu, Yao Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program 2020 10.1101/2020.12.09.20246736
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