Exomiser Transcript annotation

Would be good to highlight the canonical transcripts, Gencode_basic transcripts etc in the output so users can check the maximally damaging Jannovar consequence belongs to a clinically relevant transcript as well.

For example we prioritised a splice region variant (b37:9:37767507:C:CTCCAAAA) in ENST00000465229 but this actually undergoes NMD and is not expressed. GnomAD displays transcript and isoform expression nicely if you click the expand button e.g. https://gnomad.broadinstitute.org/gene/ENSG00000107371

Apr 30 '19 09:04 damiansm

This is a great idea. This isn't supported by Jannovar, so we'll need to add the data in somehow and also map across to the RefSeq and UCSC data.

Oct 01 '19 15:10 julesjacobsen

Also worth checking MANE

NCBI Insights Blog -- http://bit.ly/rs-mane Ensembl Blog -- http://bit.ly/ens-mane

Nov 26 '19 17:11 julesjacobsen

Best to use MANE (+ MANE clinical) for this

Feb 04 '23 17:02 damiansm