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...

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Библиографические подробности
Главные авторы: Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2013
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3563502/
https://ncbi.nlm.nih.gov/pubmed/23343000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2043-9113-3-3
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