Article
Clinical validation of targeted next-generation sequencing for inherited disorders.
Archives of pathology & laboratory medicine - 1 Feb 2015
Yohe Sophia, Hauge Adam, Bunjer Kari, Kemmer Teresa, Bower Matthew, Schomaker Matthew, Onsongo Getiria, Wilson Jon, Erdmann Jesse, Zhou Yi, Deshpande Archana, Spears Michael D, Beckman Kenneth, Silverstein Kevin A T, Thyagarajan Bharat
Abstract excerpt
CONTEXT: Although next-generation sequencing (NGS) can revolutionize molecular diagnostics, several hurdles remain in the implementation of this technology in clinical laboratories. OBJECTIVES: To validate and implement an NGS panel for genetic diagnosis of more than 100 inherited diseases, such as neurologic conditions, congenital hearing loss and eye disorders, developmental disorders, nonmalignant diseases...
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