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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Publicat a:Sci Data
Autors principals: Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6949293/
https://ncbi.nlm.nih.gov/pubmed/31913291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41597-019-0339-4
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