Author
Invitae (United States)ORCID 0000-0003-4049-0107Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Samskruthi Reddy Padigepati, David Stafford, Yuya Kobayashi…·Alix M.B. Lacoste
The paper uses single-cell RNA-seq and machine learning to classify CASR variants as gain- or loss-of-function, achieving high accuracy and clinical validation.
Chai‐Ann Ng, Matthew J. O’Neill, Samskruthi Reddy Padigepati…·Brett M. Kroncke
The paper presents a method to reduce clinical uncertainty in KCNH2-related long QT syndrome by using calibrated functional data to classify variants of uncertain significance.
Laure Frésard, Flavia M. Facio, Elaine Y. Chen…·Keith Nykamp
The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.