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Saphetor VarSome 11.4

Sep 23, 2022

Saphetor has released version 11.4 of its VarSome genome interpretation and annotation software. The update includes a points-based score for American College of Medical Genetics and Genomics (ACMG) classification, calibration of in silico scores according to ClinGen guidelines, and the ability to view matched annotation from NCBI and EMBL-EBI (MANE) Select and MANE Plus scores in ACMG classification. The new features are currently only available in the basic VarSome and the paid VarSome Clinical versions of the software; the company is waiting for feedback on the points-based system for the ACMG classifier before updating VarSome Clinical. 

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