Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
An information content approach will more accurately portray information gained through MAVE mapping efforts than by counting the number of variants reclassified. This information content approach may also help define the impact of guideline changes that modify the information definitions used to classify groups of variants.
Authors
- Shawn Fayer (ORCID: https://orcid.org/0000-0003-1883-9069)
- Tina Pesaran (ORCID: https://orcid.org/0000-0001-9807-4304)
- Carolyn Horton (ORCID: https://orcid.org/0000-0001-5186-6208)
- John Michael O. Rañola (ORCID: https://orcid.org/0000-0001-6177-4227)
- Lea M. Starita (ORCID: https://orcid.org/0000-0003-2870-5099)
- Brian H. Shirts (ORCID: https://orcid.org/0000-0002-7188-6764)
Institutions
- University of Washington (US)
- Brotman Baty Institute (US)
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- BMC Bioinformatics
- Published
- 2024-09-06
- DOI
- https://doi.org/10.1186/s12859-024-05920-5
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- National Institutes of Health
- National Human Genome Research Institute