Mapping MAVE data for use in human genomics applications.
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ABSTRACT:
SUBMITTER: Arbesfeld JA
PROVIDER: S-EPMC11230167 | biostudies-literature | 2024 Jun
REPOSITORIES: biostudies-literature
Publications
Mapping MAVE data for use in human genomics applications.
Arbesfeld Jeremy A JA Da Estelle Y EY Stevenson James S JS Kuzma Kori K Paul Anika A Farris Tierra T Capodanno Benjamin J BJ Grindstaff Sally B SB Riehle Kevin K Saraiva-Agostinho Nuno N Safer Jordan F JF Milosavljevic Aleksandar A Foreman Julia J Firth Helen V HV Hunt Sarah E SE Iqbal Sumaiya S Cline Melissa S MS Rubin Alan F AF Wagner Alex H AH
bioRxiv : the preprint server for biology 20240630
The large-scale experimental measures of variant functional assays submitted to MaveDB have the potential to provide key information for resolving variants of uncertain significance, but the reporting of results relative to assayed sequence hinders their downstream utility. The Atlas of Variant Effects Alliance mapped multiplexed assays of variant effect data to human reference sequences, creating a robust set of machine-readable homology mappings. This method processed approximately 2.5 million ...[more]
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