We have identified a small number of incidents where the calls for a sample exceed the depth.
This has been isolated to a long standing bug (at least since moving the repo public), relating to attempting to align BWA calls to the pindel calls in regions of repeat, particularly where the pindel event is multiple repeat elements.
Example shown is of a pindel deletion of 8bp, that can be considered a repeat of 2x 4bp elements. Searching for a smaller sub element is not valid as the pindel would call that as a separate event.
We have identified a small number of incidents where the calls for a sample exceed the depth.
This has been isolated to a long standing bug (at least since moving the repo public), relating to attempting to align BWA calls to the pindel calls in regions of repeat, particularly where the pindel event is multiple repeat elements.
Example shown is of a pindel deletion of 8bp, that can be considered a repeat of 2x 4bp elements. Searching for a smaller sub element is not valid as the pindel would call that as a separate event.