Beth Pitel

We recently discussed how structural variants are annotated on knowledgebases at one of our oncology annotation meetings. Here's what we concluded: 1) We would prefer structural variants/fusion to be searchable...

Per @d-cameron statement above regarding complex rearrangements: If we want to further clarify chromothrypsis, I think there is potential under this model: 1) List genomic region(s) of complexity (per chromosome...

These are beautiful illustrations, @d-cameron! I wanted to chime in and say that the last example above is what we see fairly frequently in our lab through mate pair sequencing....

@d-cameron I appreciate your comment. We have never tried to annotate chromothripsis in this manner for that very reason. It is very difficult to be concise enough yet descriptive enough...