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Next generation sequencing to promote the diagnosis and treatment of rare genetic diseases / 中华检验医学杂志
Chinese Journal of Laboratory Medicine ; (12): 486-488, 2017.
Article in Chinese | WPRIM | ID: wpr-611557
ABSTRACT
Next generation sequencing (NGS) based test provided us an unprecedented power for the molecular diagnosis of rare diseases with genetic etiology, thus enabling the practice of precision medicine.In order to maximize the clinical utilities of NGS-based test, attention should be paid to the improvement of the sequencing technology, data quality and the accuracy of data interpretation, as well as the clinical correlations and pre-and post-test genetic counseling services.In doing so, it is believed practice of NGS-based test can bring expected benefit to many patients and families.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study Language: Chinese Journal: Chinese Journal of Laboratory Medicine Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study Language: Chinese Journal: Chinese Journal of Laboratory Medicine Year: 2017 Type: Article