Aaron Quinlan

Results 196 comments of Aaron Quinlan

When you say it did not work, do you mean you know for certain there are such variants and none were returned?

Thanks for this! By the way, I will get to the other patches you provided after the 19th. I am buried in grants and other deadlines until then. Sorry for...

Hi Axel, Can you provide an example of your desired behavior?

Well, version sort is not available for the default versions of many OS. I would rather assume -V is not present, but we could always make a note about the...

Could you make sure that both files are sorted correctly? ``` sort -c -k1,1 -k2,2n N25sort.bedgraph sort -c -k1,1 -k2,2n T25sort.bedgraph ```

Current plan is to use VEP "annotation dump" to support this.

I think it would be great to add support for de novos when reporting candidate CHs. The challenge is that one cannot be confident that it causes a true CH...

Thanks for reporting this. It appears to be a logic bug, as changing the chromosomes in `test_a.bed` to "A" or "X" or "1" seems to work. @38 could you please...

It looks like your input files may not be 4 column (tab separated) BEDGRAPH filers as required. Have you checked that?