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novel promoter swap from gene fusion #5

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kgaonkar6 opened this issue Aug 10, 2020 · 0 comments
Open

novel promoter swap from gene fusion #5

kgaonkar6 opened this issue Aug 10, 2020 · 0 comments
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enhancement New feature or request

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@kgaonkar6
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kgaonkar6 commented Aug 10, 2020

From @jharenza regarding reviewer's comment:

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

@kgaonkar6 kgaonkar6 self-assigned this Aug 10, 2020
@kgaonkar6 kgaonkar6 added the enhancement New feature or request label Aug 10, 2020
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