Support for fusion hgvs
Closed this issue · 8 comments
Hi,
Thanks for your great work.
I have some fusion events, like
1, Fusion: EML4_ENST00000318522.5:intron:6|-chr2:42493486___ALK_ENST00000389048.3:intron:19|+chr2:29447415
How can I use this tool to translate it into hgvs format, something like: ENST00000367595.3(ACBD6):r.1_1261_ENST00000366932.3(RRP15):r.736_7771
Thank you.
Xiucz
The hgvs package doesn't currently support fusions and didn't exist in the HGVS recommendations at the time it was written.
I'm afraid that you'll have to implement fusion support yourself, possibly using the hgvs package to represent the two regions.
@reece
Thank you, if you know more, can you tell me how to get the r. from the g. and transcript info ?
Thank you.
r. is essentially the same as n., but with an RNA alphabet.
So, I think you should be able to use g_to_n and n_to_g methods, and then stitch the two together.
If you get this working, please share your experience on the mailing list!
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This issue is stale because it has been open 90 days with no activity. Remove stale label or comment or this will be closed in 7 days.
This issue was closed because it has been stalled for 7 days with no activity.