Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

BACKGROUND: Pathogenic mutations causing aberrant splicing are often difficult to detect. Standard variant analysis of next‐generation sequence (NGS) data focuses on canonical splice sites. Noncanonical splice sites are more difficult to ascertain. METHODS: We developed a bioinformatics pipeline tha...

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Detalles Bibliográficos
Autores principales: Bruels, Christine C., Li, Chengcheng, Mendoza, Tonatiuh, Khan, Jamillah, Reddy, Hemakumar M., Estrella, Elicia A., Ghosh, Partha S., Darras, Basil T., Lidov, Hart G. W., Pacak, Christina A., Kunkel, Louis M., Modave, François, Draper, Isabelle, Kang, Peter B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418371/
https://www.ncbi.nlm.nih.gov/pubmed/30688039
http://dx.doi.org/10.1002/mgg3.552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418371/
https://www.ncbi.nlm.nih.gov/pubmed/30688039
http://dx.doi.org/10.1002/mgg3.552

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