Article
Exome sequencing can improve diagnosis and alter patient management.
Science translational medicine - 13 Jun 2012
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
Abstract excerpt
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 in 118 probands with a diagnosis of a pediatric-onset neurodevelopmental disease in which most known causes had been...
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