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Computational assessment of feature combinations for pathogenic variant prediction
BACKGROUND: Although several methods have been proposed for predicting the effects of genetic variants and their role in disease, it is still a challenge to identify and prioritize pathogenic variants within sequencing studies. METHODS: Here, we compare different variant and gene‐specific features a...
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| Udgivet i: | Mol Genet Genomic Med |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4947862/ https://ncbi.nlm.nih.gov/pubmed/27468419 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.214 |
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