bcftools mpileup v1.15 (wrongly) does not call SNPs when bcftools mpileup v1.10.2 does

Open
#1,721 7 comments 0 reactions 0 assignees View on GitHub

Nobody has claimed this yet.

Assessment

Difficulty
4/5
Estimated time
3-5 days
Newbie friendliness
25/100
Issue type
Bug
Clarity
Needs clarification
Activity status
Stale
Tech stack
c

Research direction

Start by reproducing the reported comparison between bcftools mpileup v1.10.2 and v1.15 with the same reference, BAM, and -q 10 -d 15000 options. Inspect the mpileup behavior that changes SNP calling and DP4 values; done requires identifying the cause and confirming the expected call with a regression case.

Written by the indexing model from the issue text.

Description

requires-test-case

Hi,

I am using bcftools consensus using v1.15 and got SNPs which were weirdly not called, so I went back to the vcf files.
I have SNPs which I know exist (I am working on simulated reads) which are called when using mpileup from version 1.10.2 and not when using version 1.15, even if a lot of alternative sequences are found (see below). DP4 changes too.
I use the same reference file and the same bam file. I used the options -q 10 -d 15000 in both cases.

For instance:
with v1.10.2
gene1 51 . A T 22.268 . DP=17932;VDB=0;SGB=-0.693147;RPB=1.51927e-05;MQB=0;BQB=0.0361916;MQ0F=0;ICB=1;HOB=0.5;AC=1;AN=2;DP4=4774,0,3504,0;MQ=49 GT:PL 0/1:55,0,70

with v1.15
gene1 51 . A . 17.2269 . DP=17932;VDB=0;SGB=-0.693147;RPBZ=-6.58337;MQBZ=-88.0103;BQBZ=-2.09656;SCBZ=5.45755;FS=0;MQ0F=0;AN=2;DP4=10424,0,7508,0;MQ=49 GT 0/0

I read manual pages for both versions and cannot find a default parameter which changed.
Thanks a lot!

Dominant language
C
Stars
891
Forks
277
Avg merge
2d 23h
Merged PRs (30d)
2

Contributor guide

Open the contributing guide

First steps

  1. Read the whole issue, then the project's contributing guide.
  2. Comment on the issue to say you are picking it up — it saves two people doing the same work.
  3. Fork the repository and make your change on a branch.
  4. Open a pull request that references the issue number.

More from samtools/bcftools

All issues in samtools/bcftools

Similar issues

More C issues

Get new issues in your inbox

A short digest of beginner-friendly GitHub issues.