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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...
Autores principales: | Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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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 |
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