Scientists, integrate the next-generation sequencing technology (NGS), bioinformatics and clinical data to develop an effective diagnostic procedures , which can significantly increase the diagnosis prospects for affected patients. The program was freely provided to relevant medical care and can be used immediately.
The first step to implement appropriate treatment is accurate diagnosis - even in the case of incurable situation , which is very important. One of the developers of PhenIX diagnostics Peter Robinson said: "At least, it provides assurance , disease is not caused by their own." PhenIX represents "Phenotypic Interpretation of eXomes". In the past, these disease just can be genetic analyzed . However, this is not always sufficient to accurately detect the disease. All the detected problem is that individual differences in patient makes diagnosis becomes very difficult , we must find important differences from millions genetic variation of everyone inherent norms .
To solve this problem, scientists in Berlin developed an innovative diagnostic procedures. In contrast with the conventional diagnostic tests, PhenIX combined genetic abnormalities analysis with the clinical manifestations. In the first step, they carry out a specific search to find about 3000 known genes which will lead to disease . In order to find which genes they are, the scientists systematically searched publicly available databases, and created a list of known genetic defects. In the next step , the major doctor scans the Human Phenotype Ontology , a database developed by Charité , so as to search for the symptoms of the patients . Finally the scientists conducted a clinical experiment , they detected a group of patients , found that with the method of PhenIX , they can find out their exact cause .
PhenIX is proved a good and effective method to detect genetic disease . For more details research result , please visit
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Posted at 2014/10/29 12:43:21 | |
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