Article

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

2024-05-19

Abstract excerpt

Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this goal, the ARSA Critical Assessment of Genome Interpretation (CAGI) challenge was designed to characterize progress by utilizing 219 experimentally assayed missense VUS in the Arylsulfa-tase A ( ARSA...

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Literature Corpus work: 120661ec-408d-563d-b113-3e73401761e0
DOI: 10.1101/2024.05.16.594558

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