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DeepPVP: phenotype-based prioritization of causative variants using deep learning
BACKGROUND: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity prediction is combined with a semantic similarity...
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| Pubblicato in: | BMC Bioinformatics |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6364462/ https://ncbi.nlm.nih.gov/pubmed/30727941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-019-2633-8 |
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