deepvariant icon indicating copy to clipboard operation
deepvariant copied to clipboard

BAQ's effect on results quality (HiFi reads)

Open SHuang-Broad opened this issue 3 years ago • 4 comments

Hi,

I am wondering if the DV team has done an evaluation on how the availability of BAQ (the BQ:Z:... tag) affects the quality of calls generated from HiFi reads.

Thank you! Steve

SHuang-Broad avatar Sep 16 '22 20:09 SHuang-Broad

Hi @SHuang-Broad

By default, DeepVariant only looks at the content of the QUAL field (column 11) in order to populate the quality values. DeepVariant is able to look at and read in arbitrary additional tags (e.g. we have used the HP tag for phasing in the past). We have not previously experimented with BAQ, but with the framework above it would not be hard to look at it if you have an intuition that it might help.

If you think it is promising, we could either do this investigation ourselves, or we could try to give you some instructions on how to do an experimental training if you are interested.

Thanks, Andrew

AndrewCarroll avatar Sep 19 '22 17:09 AndrewCarroll

@SHuang-Broad - Which read aligner populates the BAQ values for HiFi reads?

With the standard PacBio tools, there is a PacBio bq:i tag output by lima demuliplexing that stores the quality of a barcode call. But, BQ:Z is not a standard output for pbmm2.

amwenger avatar Sep 20 '22 04:09 amwenger

@AndrewCarroll Thanks for the answer. We're in a bit of a time crunch now (operations), but knowing how to run that experiment will be super helpful!

@amwenger Right, pbmm2 (used in our pipeline) doesn't provide the BQ:Z tag. However, we also run samtools calmd on the BAM to generate the MD:Z tag. And calmd allows one to compute the BAQ by turning on the -r flag (off in our pipeline now). But as you can imagine, it will not be negligible compute. Hence we are interested in doing some experiments to see if DV can benefit from this tag.

Steve

SHuang-Broad avatar Sep 20 '22 19:09 SHuang-Broad

Hi @SHuang-Broad

I would like to conduct some experiments myself to investigate whether this field might help. Unfortunately, with many things going on those experiments might take some time to conclude. You mentioned you are in a time crunch. Given the uncertainty of whether this might help, I would recommend that if you need to proceed, you do so without the BAQ field (as we don't currently make use of it anyway).

AndrewCarroll avatar Sep 21 '22 21:09 AndrewCarroll

Hi @SHuang-Broad , this issue has been around for a while. If you'd like to follow up, please let us know! For now I'll close it.

pichuan avatar Nov 16 '22 18:11 pichuan