Author
Western UniversityORCID 0000-0003-2861-5325Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Daniel R. Tabet, Da Kuang, Megan Cummins Lancaster…·Frederick P. Roth
The paper evaluates computational predictors for rare variant burden tests and identifies two top predictors that enhance gene-trait association discovery in the UK Biobank.
Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý…·Mafalda Bourbon
The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.
Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro…·Genevieve L. Wojcik
ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.
Brent D. Davis, Jacqueline S. Dron, John F. Robinson…·Daniel J. Lizotte
Exautomate simplifies region-based rare variant association analysis using SKAT, demonstrating its utility with a familial hypercholesterolemia cohort.