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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...
Guardat en:
| Publicat a: | Bioinformatics |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2017
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| Matèries: | |
| Accés en línia: | 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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