Mapping MAVE data for use in human genomics applications

Mapping MAVE data for use in human genomics applications

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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Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Genome Biology
Subjects:
Functional assay
Genomics
Genomic medicine
Multiplexed assays of variant effect
Variation representation specification
Deep mutational scanning
Online Access:https://doi.org/10.1186/s13059-025-03647-x
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