Exome Sequencing Can Improve Diagnosis and Alter Patient Management

The translation of “next-generation” sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs, advance accuracy, and point to unsuspected yet treatable conditions. To study its capability in the clinic, we performed whole-exome sequencing i...

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Pubblicato in:Sci Transl Med
Autori principali: Dixon-Salazar, Tracy J., Silhavy, Jennifer L., Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E., Olvera, Jesus, Bafna, Vineet, Zaki, Maha S., Abdel-Salam, Ghada H., Mansour, Lobna A., Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A., Sonmez, F. Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J., Collazo, Adrienne, Fenstermaker, Ali G., Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V., Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B., Gleeson, Joseph G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4442637/
https://ncbi.nlm.nih.gov/pubmed/22700954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3003544
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