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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Detalles Bibliográficos
Autores principales: Ganel, Liron, Abel, Haley J, Hall, Ira M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Applications Notes
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

Internet

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

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