Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
Abstract Background The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame inser...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-02-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-023-01454-6 |