ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
Authors: Lobna Ramadane-Morchadi; Nitsan Rotenberg; Ada Esteban-Sánchez; Cristina Fortuno; Alicia Gómez-Sanz; Matthew J Varga; Adam Chamberlin; Marcy E Richardson; Kyriaki Michailidou; Pedro Pérez-Segura; Amanda B Spurdle; Miguel de la Hoya
Collaborators: Cyprus Institute of Neurology and Genetics; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos; QIMR Berghofer Medical Research Institute; The University of Queensland