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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...
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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/PMC5408916/ https://ncbi.nlm.nih.gov/pubmed/28031184 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btw789 |
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