Author
Kaiser PermanenteORCID 0000-0002-8471-0928Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Andrew Michael Glazer, Giovanni Davogustto, Christian M. Shaffer…·Dan M. Roden
The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.
Eric Venner, Victoria Yi, David R. Murdock…·Andrea L. Hartzler
Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.
Yoonjung Yoonie Joo, Jennifer A. Pacheco, William K Thompson…·M. Geoffrey Hayes
This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.
Amand Floriaan Schmidt, Michael Vaclav Holmes, David Preiss…·Albert Hofman D
The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu…·Richard A. Gibbs
Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.