Mapping MAVE data for use in human genomics applications
Genome biology2025Vol. 26(1), pp. 179–179
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Jeremy A. Arbesfeld, Estelle Y. Da, James Stevenson, Kori Kuzma, Anika Paul, Tierra R. Farris, Benjamin J. Capodanno, Sally Grindstaff, Kevin Riehle, Nuno Saraiva-Agostinho, Jordan Safer, Jonathan D. Casper, Maximilian Haeussler, Aleksandar Milosavljevic, Julia Foreman, Helen V. Firth, Sarah Hunt, Sumaiya Iqbal, Melissa Cline, Alan F. Rubin, Alex H. Wagner
Abstract
Mapping MAVE variants to human reference sequences and sharing the mapped dataset with several key human genomics applications enables a new and diverse set of applications for MAVE data. This study provides increased access to functional data that can assist in clinical variant interpretation pipelines and enable biomedical research and discovery.
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