Trio RNA sequencing in a cohort of medically complex children

Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders. Although GS can enumerate most non-coding variation, determining which non-coding variants are disease-causing is challenging. RNA sequencing (RNA-seq) has emerged as an important tool to help address this issue,...

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Detalles Bibliográficos
Autores principales: Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183368/
https://www.ncbi.nlm.nih.gov/pubmed/36990084
http://dx.doi.org/10.1016/j.ajhg.2023.03.006

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