Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Check for complex indel events #106

Open
ThomasSClarke opened this issue Feb 23, 2022 · 1 comment
Open

Check for complex indel events #106

ThomasSClarke opened this issue Feb 23, 2022 · 1 comment
Assignees

Comments

@ThomasSClarke
Copy link
Contributor

A bug in the core pindel code is currently incorrectly calling complex indel regions. These calls have the same reference allele value and alternative allele value. They should not pass when using flags FF019 and FF020, but are currently passing due to the bug in the core code.

These calls have no value and were not called previously. Masking these incorrect results will not degrade the pindel results.

Keiran has suggested adding the following code:
if($record->ref_seq eq $record->alt_seq) { warn "SKIP: Dirty record due to issue in pindel core"; next; }

within the following while loop:

my ($active_sam_fh, $sample, $strand);
while(my $record = $record_generator->next_record){
next if($opts->{'s'} && ($record->p_mt_pos + $record->p_mt_neg) < 3);

This will log the call as invalid and will exclude the record from the result vcf.

When a fix is released, the calls should then appear in the result vcf as expected.

Thoughts? @AndyMenzies @davidrajones

@ThomasSClarke ThomasSClarke self-assigned this Feb 23, 2022
@AndyMenzies
Copy link
Contributor

Sounds reasonable to me. We'll need to see what effect that has on the report results before/after the change.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants