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SVScore

SVScore

A tool for structural variation impact prediction. SVScore aggregates single nucleotide polymorphism (SNP) pathogenicity scores across genomic intervals.

Topic

Genetic variation

Details

Publications

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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