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SVScore: an impact prediction tool for structural variation
SUMMARY: Here we present SVScore, a tool for in silico structural variation (SV) impact prediction. SVScore aggregates per-base single nucleotide polymorphism (SNP) pathogenicity scores across relevant genomic intervals for each SV in a manner that considers variant type, gene features and positiona...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408916/ https://www.ncbi.nlm.nih.gov/pubmed/28031184 http://dx.doi.org/10.1093/bioinformatics/btw789 |