Andrew

END and SVLEN for SVs inconsistent with ref/alt alleles

2

Hi, I have a few variants here that are giving me errors when I try to annotate them in VEP, with a warning related to the END coordinate in the...

Description of variant ids

1

Hi, Can you explain what is the difference between the different variant ids? I don't see any documentation about this. For example, here are the most common variant types I...

Inaccurate copy number

1

Hi, We ran the example dataset with StrA and StrB and then compared the results for case-control to the original reads and it appears the copy number estimate is maybe...