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Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
BACKGROUND: The recent introduction of high throughput sequencing technologies into clinical genetics has made it practical to simultaneously sequence many genes. In contrast, previous technologies limited sequencing based tests to only a handful of genes. While the ability to more accurately diagno...
Autores principales: | Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563502/ https://www.ncbi.nlm.nih.gov/pubmed/23343000 http://dx.doi.org/10.1186/2043-9113-3-3 |
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