Some annotations for the SVs are currently provided in the reporting perl script or via bedtools intersect. This includes annotating whether SVs are in the 'hotspot' list, which is a bedpe file, and adding chromosome bands that are affected. This could be added with VEP instead, or with svtools.
dhspence
commented
5 years ago
Some annotations for the SVs are currently provided in the reporting perl script or via bedtools intersect. This includes annotating whether SVs are in the 'hotspot' list, which is a bedpe file, and adding chromosome bands that are affected. This could be added with VEP instead, or with svtools.