Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study

BACKGROUND: Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand‐alone basis. The purpose of this study was to evaluate a fully automated computerized approach. METHOD: We reviewed all variants encountered in a set o...

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Detalles Bibliográficos
Autores principales: Gall, Bryan J., Smart, Trevor B., Munch, Robin, Kolluri, Supraja, Tadepally, Hamsa, Lim, Karen Phaik Har, Demko, Zachary P., Benn, Peter, Souter, Vivienne, Sanapareddy, Nina, Keen‐Kim, Dianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747559/
https://www.ncbi.nlm.nih.gov/pubmed/36333997
http://dx.doi.org/10.1002/mgg3.2085

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