Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Abstract excerpt

With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. All kinds of disease causing...

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