A tool for structural variation impact prediction. SVScore aggregates single nucleotide polymorphism (SNP) pathogenicity scores across genomic intervals.
Genetic variation
Ganel L, Abel HJ, FinMetSeq Consortium, Hall IM "SVScore: an impact prediction tool for structural variation." Bioinformatics 2017; 33(7):1083-1085 https://doi.org/10.1093/bioinformatics/btw789
PMID: 28031184
PMCID: PMC5408916
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