Author
Johns Hopkins UniversityORCID 0000-0002-2846-9420Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Brian E. Cade, Jiwon Lee, Tamar Sofer…·Scott E. Devine
The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.
Ali Reza Keramati, Ming‐Huei Chen, Benjamin A.T. Rodriguez…·Paul S. de Vries
The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.
Daniel Taliun, Daniel Harris, Michael D. Kessler…·Ruth J. F. Loos
Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.
Pradeep Natarajan, Gina Marie Peloso, Seyedeh Maryam Zekavat…·Sayantan Das
The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.
Seyedeh Maryam Zekavat, Sanni Ruotsalainen, Robert E. Handsaker…·Brian Custer
The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.
Jonathan K. Alder, Vidya Sagar Hanumanthu, Margaret A. Strong…·Mary Y. Armanios
This study evaluates the diagnostic and prognostic value of telomere length measurement in a hospital setting, finding it alters treatment decisions in a subset of bone marrow failure patients.