{"id":2422,"date":"2018-02-02T00:00:00","date_gmt":"2018-02-02T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2422"},"modified":"2018-02-02T00:00:00","modified_gmt":"2018-02-02T00:00:00","slug":"%e7%bd%95%e8%a6%8b%e7%96%be%e7%97%85%e5%a0%b1%e5%91%8a-centomdr-%e6%8f%90%e4%be%9b%e4%ba%86%e4%b8%80%e5%80%8b%e8%99%9b%e6%93%ac%e7%9a%84%e9%81%ba%e5%82%b3%e8%b3%87%e8%a8%8a%e7%99%be%e7%a7%91%e5%85%a8","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/tw\/rare-disease-report-centomdr-provides-a-virtual-encyclopedia-of-genetic-information\/","title":{"rendered":"\u7f55\u898b\u75be\u75c5\u5831\u544a\uff1aCentoMD\u00ae \u63d0\u4f9b\u4e86\u4e00\u500b\u865b\u64ec\u7684\u907a\u50b3\u8cc7\u8a0a\u767e\u79d1\u5168\u66f8"},"content":{"rendered":"<p>\u7f55\u898b\u75be\u75c5\u793e\u7fa4\u7db2\u7ad9\u4e4b\u4e00\u2014\u300a\u7f55\u898b\u75be\u75c5\u5831\u544a\u300b\u5206\u4eab\u4e86\u4ee4\u4eba\u632f\u596e\u7684\u6d88\u606f\uff1a <a href=\"https:\/\/www.centogene.com\/tw\/%e8%a3%bd%e8%97%a5\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"\u95dc\u65bc CentoMD \u7684\u66f4\u591a\u4fe1\u606f\">CentoMD\u00ae<\/a> \u7a81\u8b8a\u8cc7\u6599\u5eab\u91cc\u7a0b\u7891\u2014\u5f9e\u8d85\u904e 20 \u842c\u500b\u60a3\u8005\u6a23\u672c\u4e2d\u6536\u96c6\u4e86 10 \u5104\u500b\u7b49\u4f4d\u57fa\u56e0\u3002.<\/p>\n<p>\u201c<a href=\"https:\/\/www.centogene.com\/tw\/%e8%a3%bd%e8%97%a5\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"\u95dc\u65bc CentoMD \u7684\u66f4\u591a\u4fe1\u606f\">CentoMD\u00ae<\/a> \u300c\u5b83\u63d0\u4f9b\u4e86\u4e00\u500b\u865b\u64ec\u7684\u57fa\u56e0\u8cc7\u8a0a\u767e\u79d1\u5168\u66f8\uff0c\u4f7f\u91ab\u7642\u4fdd\u5065\u5c08\u696d\u4eba\u54e1\u80fd\u5920\u4ee5\u66f4\u6709\u6548\u7387\u3001\u66f4\u5feb\u901f\u3001\u66f4\u6709\u91dd\u5c0d\u6027\u7684\u65b9\u5f0f\u8a3a\u65b7\u548c\u6cbb\u7642\u7f55\u898b\u75be\u75c5\uff0c\u300dCentogene \u9996\u5e2d\u57f7\u884c\u5b98 Arndt Rolfs \u91ab\u5b78\u535a\u58eb\u89e3\u91cb\u8aaa\u3002.<\/p>\n<p>\u8a72\u516c\u53f8\u8a8d\u70ba\uff0c\u8cc7\u6599\u5eab\u4e2d\u7684\u7814\u7a76\u6210\u679c\u53ef\u4ee5\u5e6b\u52a9\u91ab\u7642\u5c08\u696d\u4eba\u54e1\u6709\u6548\u7387\u5730\u8a3a\u65b7\u60a3\u8005\uff0c\u5f9e\u800c\u5be6\u73fe\u66f4\u6709\u6548\u7684\u6cbb\u7642\u3002.<\/p>\n<p>\u201c\u7f85\u723e\u592b\u65af\u6559\u6388\u5728\u65b0\u805e\u7a3f\u4e2d\u8868\u793a\uff1a\u201d\u6211\u5011\u7684\u8cc7\u6599\u5eab CentoMD\u00ae \u4e2d\u7b49\u4f4d\u57fa\u56e0\u6578\u91cf\u8d85\u904e 10 \u5104\uff0c\u9019\u662f\u4e00\u500b\u5de8\u5927\u7684\u91cc\u7a0b\u7891\uff0c\u5c07\u986f\u8457\u63d0\u9ad8\u4efb\u4f55\u57fa\u56e0\u6578\u64da\u96c6\u7684\u8cea\u91cf\uff0c\u6210\u70ba\u9032\u4e00\u6b65\u91ab\u7642\u4fdd\u5065\u7684\u57fa\u790e\u3002\u201d.<\/p>\n<p>\u8cc7\u6599\u5eab\u4e2d\u7684\u6578\u64da\u662f\u57fa\u65bc\u5168\u7403\u81e8\u5e8a\u8a3a\u65b7\u7684\u500b\u9ad4\uff0c\u5305\u542b\u7f55\u898b\u75be\u75c5\u7684\u57fa\u56e0\u5b9a\u4f4d\u3001\u86cb\u767d\u8cea\u8b8a\u5316\u3001\u8b8a\u7570\u985e\u578b\u548c\u751f\u5316\u5206\u6790\u7b49\u8cc7\u8a0a\u3002\u91ab\u7642\u5c08\u696d\u4eba\u54e1\u53ef\u4ee5\u5b58\u53d6\u6a19\u6e96\u5316\u7684\u8a3b\u91cb\u57fa\u56e0\u7a81\u8b8a\u548c57%\u672a\u767c\u8868\u7684\u81e8\u5e8a\u8b8a\u7570\u3002\u8a02\u95b1\u7528\u6236\u53ef\u4ee5\u5c07\u76f8\u95dc\u8cc7\u6599\u532f\u51fa\u5230Excel\u6587\u4ef6\uff0c\u7528\u65bc\u500b\u4eba\u8a18\u9304\u3002.<\/p>\n<p>\u6700\u65b0\u7684 CentoMD\u00ae \u8cc7\u6599\u5eab\u70ba\u81e8\u5e8a\u91ab\u751f\u63d0\u4f9b\u4e86\u8d85\u904e 520 \u842c\u500b\u8b8a\u7570\uff0c\u5176\u4e2d\u8a31\u591a\u8b8a\u7570\u662f\u900f\u904e\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\u6aa2\u6e2c\u5230\u7684\u3002.<\/p>\n<p>\u81e8\u5e8a\u91ab\u751f\u9084\u53ef\u4ee5\u6839\u64da\u4eba\u985e\u8868\u578b\u672c\u9ad4 (HPO) \u9032\u884c\u57fa\u65bc\u75c7\u72c0\u7684\u67e5\u8a62\uff0c\u800c CentoMD\u00ae \u5247\u6703\u63d0\u4f9b\u53ef\u80fd\u5b9a\u7fa9\u6240\u95dc\u6ce8\u75c7\u72c0\u7684\u6f5b\u5728\u5019\u9078\u57fa\u56e0\u548c\u8b8a\u7570\u3002.<\/p>\n<p>\u6b64\u8cc7\u6599\u5eab\u6bcf\u5b63\u66f4\u65b0\u4e00\u6b21\uff0cCentogene \u6703\u6301\u7e8c\u5c0d\u8b8a\u7570\u682a\u9032\u884c\u91cd\u65b0\u8a55\u4f30\u3002\u6bcf\u6708\u7d04\u6709 18,000 \u4f8b\u78ba\u8a3a\u75c5\u4f8b\u88ab\u52a0\u5165\u8cc7\u6599\u5eab\u3002\u8a02\u95b1\u8a72\u8cc7\u6599\u5eab\u7684\u91ab\u7642\u5c08\u696d\u4eba\u54e1\u96a8\u6642\u6703\u6536\u5230\u9019\u4e9b\u8b8a\u66f4\u901a\u77e5\uff0c\u4ee5\u78ba\u4fdd\u4ed6\u5011\u70ba\u60a3\u8005\u63d0\u4f9b\u6700\u6e96\u78ba\u7684\u8a3a\u65b7\u3002.<\/p>\n<p>Centogene \u8a8d\u70ba\uff0c\u7814\u7a76\u7f55\u898b\u907a\u50b3\u75be\u75c5\u7684\u7814\u7a76\u4eba\u54e1\u7684\u52d5\u529b\u6e90\u81ea\u65bc\u4ee5\u75c5\u4eba\u70ba\u4e2d\u5fc3\u7684\u614b\u5ea6\u3002.<\/p>\n<p>\u60a8\u53ef\u4ee5\u5728\u539f\u6587\u627e\u5230\u7b54\u6848<a href=\"https:\/\/www.raredr.com\/news\/centogenes-rare-disease-database-hits-one-billion-collected-alleles?t=physicians\" target=\"_blank\" title=\"\u95b1\u8b80\u6587\u7ae0\"> \u9019\u88e1<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>\u7f55\u898b\u75be\u75c5\u793e\u7fa4\u7db2\u7ad9\u4e4b\u4e00\u2014\u2014\u300a\u7f55\u898b\u75be\u75c5\u5831\u544a\u300b\u5206\u4eab\u4e86\u95dc\u65bc CentoMD\u00ae \u7a81\u8b8a\u8cc7\u6599\u5eab\u91cc\u7a0b\u7891\u7684\u4ee4\u4eba\u8208\u596e\u7684\u6d88\u606f\u2014\u2014\u5f9e\u8d85\u904e 20 \u842c\u500b\u60a3\u8005\u6a23\u672c\u4e2d\u6536\u96c6\u4e86 10 \u5104\u500b\u7b49\u4f4d\u57fa\u56e0\u3002.<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2422","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Rare Disease 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