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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

BACKGROUND: In current care, patients’ personal and self-reported family histories are primarily used to determine whether genetic testing for hereditary endocrine tumor syndromes (ETS) is indicated. Population genomic screening for other conditions has increased ascertainment of individuals with pa...

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Detalles Bibliográficos
Autores principales: Savatt, Juliann M., Ortiz, Nicole M., Thone, Gretchen M., McDonald, Whitney S., Kelly, Melissa A., Berry, Alexander S. F., Alvi, Madiha M., Hallquist, Miranda L. G., Malinowski, Jennifer, Purdy, Nicholas C., Williams, Marc S., Sturm, Amy C., Buchanan, Adam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172012/
https://www.ncbi.nlm.nih.gov/pubmed/35668420
http://dx.doi.org/10.1186/s12916-022-02375-4