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

Abstract 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...

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Autors principals:	Bryan J. Gall, Trevor B. Smart, Robin Munch, Supraja Kolluri, Hamsa Tadepally, Karen Phaik Har Lim, Zachary P. Demko, Peter Benn, Vivienne Souter, Nina Sanapareddy, Dianne Keen‐Kim
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2022-12-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	automated variant classification genetic testing manual curation monogenic disorder variant classification variant interpretation
Accés en línia:	https://doi.org/10.1002/mgg3.2085
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