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How the authors handle the annotation of fusions if they don't necessarily fall in exon-exon boundaries? For example in MALAT1-GLI1 fusions, the break happens in the middle of the gene body of MALAT1 (a non-coding gene) and the break on the GLI1 can happen some bases upstream on exon 5-6. Would an important fusion like be annotated correctly and not filtered away? How would you classify this fusion since it is not "in-frame" (there is no frame on the MALAT1, since it is non-coding)? Would it provide some annotation saying that is likely a "promoter-swap" kind of event? I understand most fusions occur in exons borders but I would like to know if this tool is able to handle interesting real biology cases like the one described
Can we add some annotation saying that a fusion is likely to be a "promoter-swap" kind of event?
For this and similar fasta sequence(epitope etc) analysis standard fusion format will also need to extract fusion sequence from caller input
The text was updated successfully, but these errors were encountered:
From @jharenza regarding reviewer's comment:
Can we add some annotation saying that a fusion is likely to be a "promoter-swap" kind of event?
For this and similar fasta sequence(epitope etc) analysis standard fusion format will also need to extract fusion sequence from caller input
The text was updated successfully, but these errors were encountered: