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Calibrating variant-scoring methods for clinical decision making
SUMMARY: Identifying pathogenic variants and annotating them is a major challenge in human genetics, especially for the non-coding ones. Several tools have been developed and used to predict the functional effect of genetic variants. However, the calibration assessment of the predictions has receive...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023678/ https://www.ncbi.nlm.nih.gov/pubmed/33492342 http://dx.doi.org/10.1093/bioinformatics/btaa943 |