Search Results - Helen V. Firth

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    Mapping MAVE data for use in human genomics applications

    Mapping MAVE data for use in human genomics applications by Jeremy A. Arbesfeld, Estelle Y. Da, James S. Stevenson, Kori Kuzma, Anika Paul, Tierra Farris, Benjamin J. Capodanno, Sally B. Grindstaff, Kevin Riehle, Nuno Saraiva-Agostinho, Jordan F. Safer, Jonathan Casper, Maximilian Haeussler, Aleksandar Milosavljevic, Julia Foreman, Helen V. Firth, Sarah E. Hunt, Sumaiya Iqbal, Melissa S. Cline, Alan F. Rubin, Alex H. Wagner

    Published 2025-06-01

    Abstract Background Experimental data from functional assays have a critical role in interpreting the impact of genetic variants. Assay data must be unambiguously mapped to a reference genome to make it accessible, but it is often reported relative to assay-specific sequences, complicating downstrea...

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