Author
Nationwide Children's HospitalORCID 0000-0002-9954-3982Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Daniel Puthawala, Brendan Michael Reardon, Lawrence Babb…·Alex Handler Wagner
The paper introduces Cat-VRS, a framework for computable representation of genomic variant categories to improve data interoperability and clinical interpretation.
Wesley Goar, Daniel Puthawala, Kori Kuzma…·Alex Handler Wagner
The paper evaluates challenges in genomic variant representation across resources and develops normalization methods to improve clinical outcome associations.
Timothy Clark, John Harry Caufield, Jillian A. Parker…·Monica C. Muñoz-Torres
The paper defines AI-readiness criteria for biomedical data, encompassing seven dimensions, and evaluates them across flagship datasets to ensure ethical and explainable AI practices.
Wesley Goar, Lawrence J. Babb, Srikar Chamala…·Alex Handler Wagner
The paper develops and applies a computable genotype model within the GA4GH Variation Representation Specification to enable precise and interoperable representation of genomic variation data.