Evaluating ClinGen variant curation expert panels' application of PVS1 code

CONCLUSIONS: It is difficult to understand the intricacies of the predictive data(PVS1), which often requires expert-level knowledge of disease/gene. The VCEP criteria specifications for the predictive evidence play an important role in making it more accessible for the curators to apply the predictive data by providing details concerning this complex criteria. Despite this, we believe there is a need for more guidance on standardizing this process and ensuring consistency in the application of this predictive evidence.PMID:38199457 | DOI:10.1016/j.ejmg.2024.104909

Source: European Journal of Medical Genetics - January 10, 2024 Category: Genetics & Stem Cells Authors: Xiaoyan Wang Haibo Li Haiyan Luo Yongyi Zou Haoxian Li Yayun Qin Jieping Song Source Type: research