Matteo Massidda

icon indicating a website link https://massiddamt.github.io/ icon indicating an email [email protected]

icon company Institute for Genetic and Biomedical Research (IRGB-CNR) icon location Cagliari

Results 1 issues of Matteo Massidda

SpliceAI in exomiser-14

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Hi, I'm trying to prioritize with exomiser with the following patosources: pathogenicitySources: [POLYPHEN, SIFT, CADD, SPLICE_AI] but no annotation for SPLICE_AI was retrieved. Could you please help me?