Article

Mapping MAVE data for use in human genomics applications

2023-06-23

Abstract excerpt

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...

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Literature Corpus work: 4bcc4b70-eb7b-5246-830c-c758b69569d0
DOI: 10.1101/2023.06.20.545702

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