The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification
Laure Frésard, Flavia M. Facio, Elaine Y. Chen, Alexandre Colavin, Britt A. Johnson, Carlos L. Araya, Toby R. Manders, Alexander Wahl, Hillery C. Metz, Jack Nicoludis, Karen Ouyang, Samskruthi Reddy Padigepati, Yuya Kobayashi, Jason Reuter, Keith Nykamp
The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.
medRxiv · Feb 3, 2025 · PreprintGenetic & Genomic Medicine