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A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients

PURPOSE: To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. METHODS: We retrospectively...

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Detalles Bibliográficos
Autores principales: Davis, Kyle Walter, Hamby Erby, Lori, Fiallos, Katie, Martin, Megan, Wassman, Edward Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625363/
https://www.ncbi.nlm.nih.gov/pubmed/31115190
http://dx.doi.org/10.1002/mgg3.551