A Collaborative Effort to Define Classification Criteria forATMVariants in Hereditary Cancer Patients

Lídia Feliubadaló; Alejandro Moles‐Fernández; Marta Santamariña; Alysson T Sánchez; Anael López‐Novo; Luz-Marina Porras; Ana Blanco; Gabriel Capellá; Miguel de la Hoya; Ignacio J. Molina; Ana Osório; Marta Pineda; Daniel Rueda; Xavier de la Cruz; Orland Dı́ez; Clara Ruíz-Ponte; Sara Gutiérrez‐Enríquez; Ana Vega; Conxi Lázaro

doi:10.1093/clinchem/hvaa250

Abstract

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Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.

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Feliubadaló et al. (2020) studied this question.

synapsesocial.com/papers/69dd2e7c7808b00a4799b64e https://doi.org/10.1093/clinchem/hvaa250

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Abstract

This is the authors' abstract. We don't add key points for this paper.

Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.

A Collaborative Effort to Define Classification Criteria forATMVariants in Hereditary Cancer Patients

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A Collaborative Effort to Define Classification Criteria forATMVariants in Hereditary Cancer Patients

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