Vincenzo Rallo

icon company Institute for Genetic and Biomedical Research (IRGB) - National Research Council (CNR) icon location Cagliari, Italy

Results 2 comments of Vincenzo Rallo

SpliceAI in exomiser-14

Likewise, I'm trying to get the spliceai score in output files (both tsv and html), using it for variant priotization in pathogenicity data, but can't understand how to do it....

SpliceAI in exomiser-14

Thanks all for the clarification! So if we modify the database by including the spliceAI scores, will Exomiser automatically be able to use this information in the prioritisation algorithm?