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Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system.

Gene - 5 Sept 2022

Rodríguez-Salgado Liliana Elizabeth, Silva-Aldana Claudia Tamar, Medina-Méndez Esteban, Bareño-Silva José, Arcos-Burgos Mauricio, Silgado-Guzmán Daniel Felipe, Restrepo Carlos M

Abstract excerpt

INTRODUCTION: By 2021, the American College of Medical Genetics and Genomics (ACMG) published the last version of their secondary findings (SF) reporting recommendations for cases in which a person receives a genetic test. OBJECTIVE: To determine in a sample of the Colombian population the prevalence of SF for the 59 genes on the ACMG SF v2.0 list associated with 27 genetic diseases. MATERIALS AND METHODS: An...

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PMID: 35803546
DOI: 10.1016/j.gene.2022.146699

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