Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
Abstract Background Classification of rare missense variants remains an ongoing challenge in genomic medicine. Evidence of pathogenicity is often sparse, and decisions about how to weigh different evidence classes may be subjective. We used a Bayesian variant classification framework to investigate...
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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2023-12-01
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| Serie: | Genome Medicine |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s13073-023-01264-6 |
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