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BCFtools/csq: haplotype-aware variant consequences
MOTIVATION: Prediction of functional variant consequences is an important part of sequencing pipelines, allowing the categorization and prioritization of genetic variants for follow up analysis. However, current predictors analyze variants as isolated events, which can lead to incorrect predictions...
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| Publicado no: | Bioinformatics |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5870570/ https://ncbi.nlm.nih.gov/pubmed/28205675 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx100 |
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