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Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel

Cystic fibrosis (CF) is one of the most common genetic diseases worldwide with high carrier frequencies across different ethnicities. Next generation sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has proven to be an effective screening tool to determine carrier st...

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Detalles Bibliográficos
Autores principales: Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949293/
https://www.ncbi.nlm.nih.gov/pubmed/31913291
http://dx.doi.org/10.1038/s41597-019-0339-4