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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2013
Θέματα:
Research
Διαθέσιμο Online: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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