4
votes
Accepted
How to get unique somatic mutations for each individual patients
If what you want is to split the main VCF file into 1 file per sample, you could use bcftools query and view commands.
A similar question was asked on biostars, adapting Jorge Amigo's solution to ...
- 595
3
votes
Accepted
What can be the bias of aligning paired-reads in a single-end mode?
In principle one should simply not align paired-end reads as if they were single end reads, not only because you are not taking advantage of the forward/reverse information contained in the reads, but ...
- 705
2
votes
Information about control data
Without control data from your subjects, I don't think there's really no way to distinguish somatic mutations from germ-line mutations. The best you can do is to screen out common variants, which are ...
- 1,806
1
vote
What can be the bias of aligning paired-reads in a single-end mode?
I tried to give me this explanation: with single-end alignment of paired-end reads, losing the directionality of the reads and also the expected fragment length, the R2 no longer maps if it maps the ...
- 43
1
vote
Accepted
Which tools are available to call somatic mutations on non-coding regions from whole genome sequencing data?
Those will have to be treated as separate analysis. You can use Mutect or VarScan for the matched samples and the tools listed in the other question for the unmatched samples however that means that ...
- 2,574
1
vote
Accepted
somatic SNV tool for ONT samples
ClairS is now released for long-read somatic variant calling. https://github.com/HKU-BAL/Clairs
- 26
1
vote
polidy VCF file for Canvas somatic-wgs cnv calling
It seems you need to supply vcf files specifying the ploidy of the sex chromosomes.
See https://github.com/Illumina/canvas/issues/89 for explanation and example vcf files.
- 11
1
vote
Accepted
What samples can be used for a Mutect2 Panel of Normals
As suggested by @burger in their comment, you can indeed use solid tissue samples as normals for your PON. You are clearly aware, but I want to spell this out for others, that there are a few caveats ...
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