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Soft clip disappeared after CallMolecularConsensusReads #1016

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jonghwanyoon opened this issue Dec 2, 2024 · 2 comments · May be fixed by #1026
Open

Soft clip disappeared after CallMolecularConsensusReads #1016

jonghwanyoon opened this issue Dec 2, 2024 · 2 comments · May be fixed by #1026
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@jonghwanyoon
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hello

When calling Molecular consensus reads using fgbio's CallMolecularConsensusReads, the soft clip disappears.
I went through CorrectUmis, GroupReadsByUmi, CallMolecularConsensusReads, alignment on a bam file mapped with raw fastq, and noticed that the soft clips disappeared on important singleton reads.

Given the presence of soft clips in the bam file resulting from GroupReadsByUmi, it seems that the issue is in CallMolecularConsensusReads.

I only gave CallMolecularConsensusReads the java option and the --min-reads=1 parameter.
There doesn't seem to be any parameter associated with CallMolecularConsensusReads (I could be wrong)
This is the same in 2.1.1, when collapsing between chromosomes became possible, and in 2.4.0, the current latest version.

Although it is a singleton read, it is an important read that represents a clinically meaningful fusion, so I don't want the soft clips to disappear.
May I request your opinion on this issue?

Thank you!

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@nh13
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nh13 commented Feb 6, 2025

@jonghwanyoon I've added a test in #1026 to show where this occurs in the consensus calling process. In particular, it happens here:

val clipPosition = rec.length - this.clipper.numBasesExtendingPastMate(rec=rec)

A read is clipped/trimmed based on if it extends past its mate. In the case that the same end is clipped on both reads, perhaps we shouldn't clip, we'll have to think about this further.

In the meantime, if you'd like to sponsor this work, feel free to reach out to us.

@nh13 nh13 self-assigned this Feb 6, 2025
@nh13
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nh13 commented Feb 6, 2025

@jonghwanyoon I think I found an easy fix, will need a review from the team

@nh13 nh13 assigned tfenne and unassigned nh13 Feb 6, 2025
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3 participants