Technical Name |
A system to facilitate next generation sequencing analysis |
Project Operator |
National Taiwan University Hospital |
Project Host |
胡務亮 |
Summary |
This project established a rapid next generation sequencing analysis system, to help clinicians to have next generation sequencing result in time. It shortened the timeline to do sequencingthe time needed for analysis, to improve the quality of medical care. |
Scientific Breakthrough |
We perform rapid whole exome sequencing to diagnose genetic disease for pediatric critical patients. The major work aims on the establish the connection between clinicianlaboratory, shorten the timeline for sequencing, variant analysisprioritization ,interpretation. So that we can shorten the turnaround time of the test.
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Industrial Applicability |
With the rapidly growing next generation sequencing technology, moremore challenges encountered. In this situation, the workflow established in this project will help the healthcare, especially intensive care system. It will change the medical care in the futureprovide precision medicine,become a model for critical care.
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Keyword |
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