Author
New York Genome CenterORCID 0000-0001-7708-3076Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Peter Orchard, Thomas W. Blackwell, Linda Kachuri…·Jeffrey L. Curtis
The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.
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.
Allison Regier, Yossi Farjoun, David E. Larson…·Ira M. Hall
The paper defines functional equivalence standards for genome sequencing pipelines to enable harmonized variant calling across diverse datasets with minimal batch effects.
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.