Vážené kolegyne a kolegovia,
kto by mal záujem zúčastniť sa porovnávacej štúdie systémov na klasifikáciu variantov, obráťte sa prosím na dr. Konečného, poskytne Vám konkrétne informácie. V štúdii sa bude porovnávať ACMG a ABC systém – stručná informácia v priložených dokumentoch na konci emailovej správy.
Pôvodný email z ESHG:
Dear Colleague,
We want to perform a study comparing the ACMG system and the ESHG-developed ABC system for variant classification. This is an investigation of inter-laboratory consistency and clinical usefulness. To this end, 10 cases have been selected for ACMG and ABC classification (.docx file enclosed). We also enclose a .pptx file explaining the ABC system if needed (also explained in the .docx file).
We would highly appreciate it if you could forward this request to genetic laboratories within your country, and those who want can then join us and also be part of a planned publication.
With many thanks in advance and best regards
Gunnar D Houge, Treasurer ESHG
Andreas Laner
Johan den Dunnen
