Hello,
I found that some samples had different variant data between releases.
Below is the example for one sample.
v8.1 - p.A767_V769dup (codon: atg/aTGGCCAGCGtg)
v9.1 - p.M766Nfs*131 (codon: atg/aAtg)
v10.1 - p.M766delinsIGQR (codon: atg/atTGGCCAGCGg)
v11.0 - p.M766delinsIGQR
Protein position is the same, but variant data is quite different. "p.A767_V769dup" is a well-known mutation, but " p.M766delinsIGQR" is new variant. Thus, I am wondering why the variant changed for the same sample between releases. what would be the reasons for variant changes? Has data been re-sequenced or annotated for every release?
I am not sure if it is okay to list sample_id here, but I can provide the sample_id if helpful.
Thank you for your help.
Thanks,
Jin
Created by jlhongtw Hi Haley,
This is really helpful. Thank you so much for your help.
Thanks,
Jin Hi @jlhongtw ,
Thank you for your question. Data is re-annotated with each release to incorporate any fixes and improvements in the the annotator tool. Additionally, the annotator was changed to Genome Nexus starting in release 9 as described in the [release notes](https://www.synapse.org/#!Synapse:syn24179675) and improved in release 10 ([release notes](https://www.synapse.org/#!Synapse:syn25923168)). Various filters are also adjusted to improve variant data quality. We recommend reviewing the associated data guide and release notes for each release for more information and using the most recent release for highest quality data.
Best,
Haley
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