Publications
István Bocka, Krisztina Némethb, Klára Pentelényic, Péter Baliczac, Anna Balázsb, Mária Judit Molnárc, Viktor Románd, József Nagye, György Lévayf, Julianna Koboláka, András Dinnyésa
Fabric Genomics' (formerly Omicia) Opal clinical genetic interpretation software was used to identify an EHMT1 mutation in autism. "Phenotypic effects of the final candidate variants were evaluated using the ACMG guidelines & Omicia Opal." Opal has integrated the most up-to-date ACMG classification guidelines in the software.