Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

BACKGROUND: New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed...

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Detalles Bibliográficos
Autores principales: Kim, Man Jin, Kim, Soo Yeon, Lee, Jin Sook, Kang, Sanggoo, Park, Lae-Jeong, Choi, Wooyong, Jung, Ju Yeol, Kim, Taehyung, Park, Sung Sup, Ko, Jung Min, Seong, Moon-Woo, Chae, Jong Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791005/
https://www.ncbi.nlm.nih.gov/pubmed/36544340
http://dx.doi.org/10.3343/alm.2023.43.3.280

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