Comments (6)
@jfjlaros Maybe using a different approach for a duplication variant, similar to a repeat
/delins
would be better?
from mutalyzer.
Why do we need any visualisation apart from that of a delins
?
from mutalyzer.
This is what we currently do. An ins
is visualized as a delins
with no deleted part and a dup
is also visualized as an ins
(as in the first image above), but it could be also visualized as in the bottom picture.
from mutalyzer.
I would not make any exceptions for different types of variants. I also do not think this is the problem here.
The description NC_000023.11(NM_000109.4):c.8-3dup
is just syntactic sugar for NC_000023.11(NM_000109.4):c.8-3_8-2insT
, which should be visualised just like NC_000023.11(NM_000109.4):c.8-3_8-2insG
.
from mutalyzer.
The ins
view was also my initial choice, but now, considering that a dup
is actually a repeat
where the repeat number is 2
, I think that it should also be visualized as such, similar to NC_000023.11(NM_000109.4):c.8-3T[2]
. Of course, for this example the normalized description should be maybe NC_000023.11(NM_000109.4):c.8-6_8-3T[5]
, but this is a different discussion.
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I would just fix this issue in the most straightforward way possible. We can discuss more complicated visualisation approaches at a later stage.
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Related Issues (20)
- Valid protein descriptions rejected.
- Bug? Incorrect p. generation in Normalizer with antisense insertions and duplications for NC refs HOT 1
- Different approach for RNA/protein descriptions HOT 1
- Coding transcript with no CDS annotation HOT 2
- Valid `r.` description rejected.
- Missing semantic check(s) in sequence mode.
- Inconsistent transcript selector correction.
- Short descriptions of variants are not interpreted correctly HOT 1
- Error in normalizer: UnknownSeq is deprecated in biopython 1.81 HOT 1
- Is the cache still supported? HOT 1
- Increase accepted query length of Description Extractor to 10 or 30kb?
- Disambiguation issue (selector). HOT 3
- Problem with Ensembl description
- Problem with normalized position HOT 2
- Problem with NR_ description HOT 1
- Could someone kindly provide an example of using Mutalyzer3 API with Python? HOT 8
- unexpected keyword argument 'strand' HOT 4
- Coordinate system c does not match with M65131.1 c coordinate system. HOT 2
- Add input support for other variant formats HOT 1
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