genome / pindel

Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-gen sequence data. It uses a pattern growth approach to identify the breakpoints of these variants from paired-end short reads.
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The output format of pindel #96

Open zhangnan0107 opened 6 years ago

zhangnan0107 commented 6 years ago

Hi, I got a question referring to "sample name + 6 numbers" pattern and the number for AD tag when looking through the output files from pindel. Could you please help me out?

First, the 6 numbers following sample name, I have already read the explanations from https://github.com/genome/pindel/commit/b706fba61c64a11fb1d3716d501fd2f4d8992e29. Still confused about the first 2 numbers, are they the depth (ref + alt) or only the ref count?

By the way, just want to clear up that the larger one of these 2 numbers will be used as the first number in AD tag when converting pindel result to vcf file, right?

Screenshot below is the text I read, as you can see, both "read depth" and "reference coverage" are used in describing the first 2 numbers, so which one is correct, the ref OR ref + alt pindel

Thanks, Nan