Refseq Annotations in Seqr

[Tulasi08]

Hi Team,

Is it possible to get Refseq transcripts in Seqr? I tried downloading the Cache files and fastq reference files specific for refeseq separately into the docker image's mounted directory. Is there any way to use Refseq annotations instead of Ensembl?

Thanks and Regards,
Tulasi S

[hanars]

There is no way to get refseq transcripts run in the seqr loading pipeline. However, If you run ./manage.py update_refseq then when you click into the detailed transcript view for a variant you will see the corresponding refseq transcript(s)