Bioconductor / VariantAnnotation

Annotation of Genetic Variants
https://bioconductor.org/packages/VariantAnnotation
23 stars 20 forks source link

Added support for single breakend notation #7

Closed d-cameron closed 6 years ago

d-cameron commented 6 years ago

VCFv4.3 section 5.4.9 defines a single breakend notation which uses . to signify a breakend with an unknown partner. Currently, VariantAnnotation attempts to load these variants as a DNAStringSet which results in ALT of all breakend variants being removed when loading the VCF.

vobencha commented 6 years ago

Thanks @d-cameron .