Article: Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect.
bioRxiv : the preprint server for biology
2023
Abstract: Background: A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of current understanding. A primary metric of clinical utility for ... ...
| Abstract | Background: A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of current understanding. A primary metric of clinical utility for multiplexed assays of variant effect (MAVE) is the number of variants that can be reclassified from uncertain significance (VUS). However, we hypothesized that this measure of utility underrepresents the information gained from MAVEs and that an information theory approach which includes data that does not reclassify variants will better reflect true information gain. We used this information theory approach to evaluate the information gain, in bits, for MAVEs of Results: BRCA1 Conclusions: An information content approach will more accurately portray information gained through MAVE mapping efforts than counting the number of variants reclassified. This information content approach may also help define the impact of modifying information definitions used to classify many variants, such as guideline rule changes. |
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| Language | English |
| Publishing date | 2023-10-20 |
| Publishing country | United States |
| Document type | Preprint |
| DOI | 10.1101/2023.10.20.562794 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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