Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

BACKGROUND: A weakness of exome analysis lies in inability to characterize aberrant splicing other than those involving consensus donor‐acceptor sequence. To overcome this limitation, we developed a novel analytic method SAVNet that combines transcriptome and exome analysis which enabled the success...

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Detalles Bibliográficos
Autores principales: Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Abe‐Hatano, Chihiro, Kurosawa, Kenji, Kosaki, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503209/
https://www.ncbi.nlm.nih.gov/pubmed/32588992
http://dx.doi.org/10.1002/mgg3.1364

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503209/
https://www.ncbi.nlm.nih.gov/pubmed/32588992
http://dx.doi.org/10.1002/mgg3.1364

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