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Scalable Approaches for Generating, Validating and Incorporating Data from High-Throughput Functional Assays to Improve Clinical Variant Classification

Samskruthi Reddy Padigepati, David A. Stafford,Christopher A. Tan, Melanie R. Silvis, Kirsty Jamieson, Andrew Keyser, Paola Alejandra Correa Nunez,John M. Nicoludis,Toby Manders,Laure Fresard,Yuya Kobayashi,Carlos L. Araya,Swaroop Aradhya,Britt Johnson,Keith Nykamp,Jason A. Reuter

Human Genetics（2024）

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Key words
MAVE,Machine learning,Variant classification
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