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Transform bam file from specific gene regions to whole genome

Hi there,

I made the aligment of my reads to a reference that contains only the gene regions I am interested in (capture-based sequencing) because I wanted to reduce time of analysis. Due to that my BAM and VCF file are related to that regions and not to the whole genome.

I want my file to be transformed and make them related to whole genome but I don’t know how to do that.

How can I do this ?

If you need more info pls let me know

bam vcf

1 answer

Do yourself a favour and repeat the alignment to the entire genome. Alignment to subsets leads to false positives because capture-based techniques always have off-targets outside of the capture on-target regions, but as these are not in the reduced genome the aligner will still try to align them somewhere, even if this is not the true origin of the sequence. It is good practice to align to the entire genome, there are multiple threads on BIostars discussing this, plus it saves you from the effort to do any custom extrapolation back to the entire genome. You will see from the alignment stats that a notable portion of reads will align outside of the targets, that is simply how it is, noise/off-targets are inherent in any assay.

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