Closed TeodoraTockovska closed 3 months ago
I would like to use Mutalyzer 3 for my tasks but I can't because it lacks the ability to select an assembly
The normalizer accepts the following (unofficial) syntax to select a transcript from an assembly:
GRCh37(NM_003002.4):c.274del
which leads us to the genomic description NC_000011.9:g.111959695del
.
Additionally, the following (also unofficial) syntax can be used to select a chromosome:
GRCh37(chr11):g.111959695del
which leads us (amongst others) to the transcript description NC_000011.9(NM_003002.4):c.274del
.
Is this what you need?
I assume the best way to submit a list of variants is to use the API.
That, or you can use the Batch Processor.
I recommend improving the documentation for the API
I fully agree.
@jfjlaros Thank you for your response, those tips are very helpful!
Hi! I have used Mutalyzer 2.0 in the past (Position Converter). Could you please add the Assembly feature to Normalizer (Mutalyzer 3.0)? I would like to use Mutalyzer 3 for my tasks but I can't because it lacks the ability to select an assembly (I require GRCh37 assembly).
Since the web application of Mutalyzer 3 searches 1 variant at a time, I assume the best way to submit a list of variants is to use the API. I recommend improving the documentation for the API (specifically adding descriptions for the parameters).
Thanks.