\u533b\u5b66\u5e94\u7528\u5916\u663e\u5b50\u65b9\u6848<\/div>\n
\u5efa\u8bae\u7528\u65f6\uff1a7\u5206\u949f<\/div>\n
\u3010\u6982\u8981\u3011\u57fa\u56e0\u68c0\u6d4b\u5982\u4f55\u5e2e\u52a9\u9057\u4f20\u75c5\u8bca\u65ad\uff1f16\u5e74\u6765\u53d7SMA\u6298\u78e8\u7684\u60a3\u8005\u56e0\u4e3a\u57fa\u56e0\u9776\u5411\u836f\u7269\uff0c\u53ef\u4ee5\u6446\u52a8\u624b\u6307\u591f\u5230\u811a\u5c16\u3002\u6cbb\u7597\u59cb\u4e8e\u8bca\u65ad\uff0c\u636e\u9884\u4f30\u4e34\u5e8a\u9057\u4f20\u75c5\u7684\u8bca\u65ad\u7387\u4ec5\u4e3a50%\uff0c\u5176\u4e2d30%\u7684\u6210\u529f\u8bca\u65ad\u75c5\u4f8b\u5f97\u76ca\u4e8e\u57fa\u56e0\u8bca\u65ad\u30025\u67084\u65e5\uff0c\u56fd\u9645\u7f55\u89c1\u75c5\u8054\u76df\u5728\u300aCell\u300b\u5b50\u520a\u300aAJHG\u300b\u4e0a\u53d1\u8868\u7f55\u89c1\u75c5\u7efc\u8ff0\u6587\u7ae0\uff0c\u540c\u65f6\uff0c\u533b\u5b66\u5e94\u7528\u5916\u663e\u5b50\u63d0\u4f9b\u4e86\u89e3\u51b3\u65b9\u6848\u3002\u53c2\u8003\u8d44\u6599\u89c1\u6587\u672b\u3002\u56de\u590d\u201cAImedExome\u201d\u5373\u53ef\u83b7\u5f97\u6587\u732epdf\u3002<\/div>\n
<\/div>\n
\u4f5c\u8005\uff1a\u57fa\u56e0\u6167\uff08\u8f6c\u8f7d\u8bf7\u8054\u7cfb\u6388\u6743\uff09<\/div>\n
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\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics34YPMRF57pEyJKj6AK8UXkydLgFCJFKcvIG3JCL4f17G2kh4o4WXlXQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics34YPMRF57pEyJKj6AK8UXkydLgFCJFKcvIG3JCL4f17G2kh4o4WXlXQ.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u56fe\uff1a\u60a3SMA\u7684\u60a3\u8005\u4e39\u5c3c\u3002\u56fe\u7247\u6765\u81eaNexstar Broadcasting<\/div>\n
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\u9776\u5411\u836f\u7ed916\u5c81\u7f55\u89c1\u75c5\u60a3\u8005\u63d0\u4f9b\u5e0c\u671b<\/div>\n
<\/div>\n
\u5728\u4e39\u5c3c6\u4e2a\u6708\u5927\u7684\u65f6\u5019\uff0c\u533b\u751f\u544a\u8bc9\u4ed6\u7684\u7236\u6bcd\uff0c\u53ef\u4ee5\u505a\u6700\u540e\u7684\u544a\u522b\u4e86\uff0c\u4ed6\u88ab\u8bca\u65ad\u4e3a\u4e00\u79cd\u53eb\u505aSMA\uff08\u810a\u9ad3\u6027\u808c\u840e\u7f29\u75c7\uff09\u7684\u91cd\u578b\u75be\u75c5[1]\u3002\u4e39\u5c3c\u7684\u7236\u6bcd\u6ca1\u6709\u653e\u5f03\uff0c\u505a\u4e86\u65e0\u6570\u6b21\u624b\u672f\uff0c\u5305\u62ec\u810a\u67f1\u624b\u672f\u6765\u7ea0\u6b63\u810a\u67f1\u4fa7\u51f8\uff0c\u4ee5\u53ca\u7c7b\u4f3c\u6e05\u7406\u80ba\u90e8\u7684\u65e5\u5e38\u62a4\u7406\uff0c\u4e24\u5c81\u5f00\u59cb\u5750\u5728\u8f6e\u6905\u91cc\uff0c\u4e39\u5c3c\u76ee\u524d\u5728\u4e0a\u9ad8\u4e2d\uff0c\u975e\u5e38\u64c5\u957f\u4ee3\u6570\u548c\u7269\u7406\u3002<\/div>\n
<\/div>\n
SMA\u7684\u53d1\u75c5\u539f\u56e0\u662f\u4eba\u4f53\u5185SMN1\u57fa\u56e0\u7684\u7f3a\u5931\u6216\u5f02\u5e38\u7a81\u53d8\uff0c\u5bfc\u81f4SMN\u86cb\u767d\u7f3a\u5931\u6216\u663e\u8457\u51cf\u5c11\u3002\u6ca1\u6709\u8fd9\u79cd\u86cb\u767d\uff0c\u795e\u7ecf\u7ec6\u80de\u5c31\u6709\u53ef\u80fd\u840e\u7f29\u5e76\u6700\u7ec8\u6b7b\u4ea1\uff0c\u4ece\u800c\u5bfc\u81f4\u808c\u8089\u7684\u65e0\u529b\u3002\u5e78\u8fd0\u7684\u662f\uff0c2016\u5e74FDA\u6279\u51c6\u4e00\u79cd\u53eb\u505aSpinraza\u7684SMA\u836f\u7269\uff0c\u4ed6\u80fd\u6539\u53d8SMN2\u57fa\u56e0\u7684\u526a\u63a5\u6765\u589e\u52a0SMN\u86cb\u767d\u7684\u4ea7\u751f\u3002\u4e39\u5c3c\u7684\u533b\u751f\u7ed9\u4ed6\u6ce8\u5c04\u8fd9\u79cd\u836f\u7269\u540e\uff0c\u4ed6\u7684\u53f3\u81c2\u4e0a\u5347\u5230\u80f8\u524d\u3002 \u4ed6\u53ef\u4ee5\u7528\u4ed6\u7684\u624b\u6307\u591f\u5230\u81ea\u5df1\u7684\u811a\u3002<\/div>\n
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\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3vKLqqbXdEI529IEN2ics61c3XQtc5gDs8pibtYt9b3fgSkKSNzpxiczfA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3vKLqqbXdEI529IEN2ics61c3XQtc5gDs8pibtYt9b3fgSkKSNzpxiczfA.jpeg\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe\uff1aSMN1\u57fa\u56e0\u5f71\u54cdSMAN\u86cb\u767d\u4ea7\u751f\uff0c\u7ee7\u800c\u5f71\u54cd\u808c\u8089\u3002\u56fe\u7247\u6765\u81ea\u4e92\u8054\u7f51<\/div>\n
35\u5bb6\u673a\u6784\u7efc\u8ff0\u7f55\u89c1\u75c5\u7814\u7a76<\/div>\n
\u7f55\u89c1\u75c5\u7684\u8bca\u65ad\u548c\u6cbb\u7597\u4e00\u76f4\u662f\u533b\u7597\u9886\u57df\u7684\u91cd\u70b9\u8bfe\u9898\u3002\u4e0d\u4ec5\u4ec5\u662f\u60a3\u8005\u3001\u60a3\u8005\u5bb6\u4eba\u4ee5\u53ca\u533b\u751f\uff0c\u5bf9\u4e8e\u7814\u7a76\u4e5f\u6709\u7740\u91cd\u8981\u7684\u610f\u4e49\u3002\u56e0\u4e3a\u5176\u4e2d\u6709\u5f88\u5927\u4e00\u90e8\u5206\u662f\u5355\u57fa\u56e0\u9057\u4f20\u75c5\uff0c\u5bf9\u4e8e\u75c5\u7406\u7814\u7a76\u3001\u57fa\u56e0\u529f\u80fd\u4ee5\u53ca\u5e38\u89c1\u75c5\u7684\u8bca\u7597\u63d0\u4f9b\u7ebf\u7d22\u3002\u56fd\u9645\u7f55\u89c1\u75c5\u8054\u76df\uff08IRDiRC\uff09\u81ea2011\u5e74\u8d77\uff0c\u7ec4\u7ec7\u7814\u7a76\u8005\u548c\u76f8\u5173\u673a\u6784\u5171\u540c\u63d0\u9ad8\u7f55\u89c1\u75c5\u8bca\u7597\u6c34\u5e73\u3002<\/div>\n
\u00a0<\/div>\n
5\u67084\u65e5\uff0cCHEO\uff08Children\u2019s Hospital of Eastern Ontario Research Institute\uff09\u7684Kym M. Boycott\u6559\u6388\u8054\u5408\u534e\u76db\u987f\u5927\u5b66\u3001Orphanet\u7b4935\u5bb6\u7814\u7a76\u673a\u6784\u7684\u5b66\u8005\uff0c\u5728Cell\u5b50\u520a\u300aThe American Journal of Human Genetics\u300b\uff08AJHG\uff09\u4e0a\u53d1\u8868\u7f55\u89c1\u75c5\u7684\u7efc\u8ff0\u6587\u7ae0\uff0c\u68b3\u7406\u7f55\u89c1\u75c5\u8bca\u65ad\u8d44\u6e90\u3001\u74f6\u9888\u548c\u76f8\u5173\u5efa\u8bae[5]\u3002\u4ee5\u4e0b\u4e3a\u4e3b\u8981\u5185\u5bb9\u3002<\/div>\n
\u00a0<\/div>\n
\u9057\u4f20\u75c5\u8bca\u65ad\u738750%\uff0c\u57fa\u56e0\u8bca\u65ad\u8d21\u732e30%<\/div>\n
20\u4e07\u548c1\/2000<\/div>\n
\u7f55\u89c1\u75c5\u5728\u7f8e\u56fd\u5b9a\u4e49\u4e3a\u60a3\u75c5\u4eba\u6570\u5c11\u4e8e20\u4e07\u7684\u75be\u75c5\uff1b\u5728\u6b27\u6d32\u5b9a\u4f4d\u4e3a\u60a3\u75c5\u7387\u4f4e\u4e8e1\/2000\u7684\u75be\u75c5\u3002<\/div>\n
\u00a0<\/div>\n
7000\u79cd<\/div>\n
\u5176\u4e2d\u4e00\u90e8\u5206\u7f55\u89c1\u75c5\u7531\u4e8e\u5355\u4e2a\u57fa\u56e0\u6539\u53d8\u5f15\u8d77\u7684\uff0c\u8fd9\u4e9b\u88ab\u79f0\u4e3a\u7f55\u89c1\u53ca\u9057\u4f20\u75be\u75c5\uff08Rare Genetic Diseases, RGDs)\uff0c\u4e5f\u88ab\u79f0\u4e3a\u5b5f\u5fb7\u5c14\u9057\u4f20\u75c5\u6216\u5355\u57fa\u56e0\u75c5\u3002\u6839\u636e\u533b\u7597\u548c\u9057\u4f20\u4fe1\u606f\u9884\u4f30\uff0c\u76ee\u524dRGDs\u8fbe7000\u4f59\u79cd\uff08\u7f16\u8005\u6309\uff1a\u636e\u7814\u7a76\u8005\u4f30\u8ba1\u6211\u56fd\u7f55\u89c1\u75c5\u60a3\u8005\u8d85\u8fc72000\u4e07\uff09\u3002<\/div>\n
\u00a0<\/div>\n
\u56fd\u9645\u6743\u5a01\u9057\u4f20\u75c5\u6570\u636e\u5e93<\/div>\n
\u6ce8\uff1a\u75be\u75c5\u548c\u57fa\u56e0\u6570\u5206\u522b\u57fa\u4e8e2016\u5e749\u6708\u7248\u672c\uff08OMIM\u548cOrphat\uff09\u4ee5\u53ca2017\u5e745\u6708\u7248\u672c\uff08ClinGene)\u7edf\u8ba1<\/div>\n
\u5176\u4e2dOMIM\u4e3b\u8981\u4ee5\u57fa\u56e0\u4e3a\u4f9d\u636e\u5bf9\u75be\u75c5\u8fdb\u884c\u5206\u7c7b\uff1bOrphanet\u6309\u7167\u4e34\u5e8a\u75be\u75c5\u5206\u7c7b\uff1bClinGen\u5c06\u516c\u5f00\u53d1\u8868\u7684\u57fa\u56e0-\u75be\u75c5\u7684\u5173\u8054\u8fdb\u884c\u8bc4\u5206\u3002<\/div>\n
\u00a0<\/div>\n
\u524d20\u5e74\u7684\u7814\u7a76\u5904\u4e8e\u521d\u7ea7\u9636\u6bb5<\/div>\n
\u4ece\u4e0a\u4e16\u7eaa80\u5e74\u4ee3\u5230\u672c\u4e16\u7eaa\u521d\uff0c\u5bf9\u57fa\u56e0\u7684\u4f20\u7edf\u7814\u7a76\u4e3b\u8981\u7b56\u7565\uff1a<\/div>\n
\u8fde\u9501\u5206\u6790<\/div>\n
\u5b9a\u4f4d\u514b\u9686<\/div>\n
\u5019\u9009\u7684\u5c11\u6570\u57fa\u56e0\u7684\u6d4b\u5e8f<\/div>\n
\u4f46\u662f\u5927\u591a\u6570\u7814\u7a76\u90fd\u662f\u57fa\u4e8e\u5047\u8bbe\u3002\uff08hypothesis driven\uff09<\/div>\n
\u00a0<\/div>\n
NGS(next generation sequencing\uff0c\u4e0b\u4e00\u4ee3\u6d4b\u5e8f)\u6280\u672f\u7684\u5174\u8d77\uff0c\u81ea2010\u5e74\u8d77\uff0c\u52a0\u901f\u4e86\u5bf9\u57fa\u56e0\u548c\u75be\u75c5\u7684\u5173\u8054\u7814\u7a76\u3002\u4e3b\u8981\u7b56\u7565\uff1a<\/div>\n
Panel\u5206\u6790\uff08\u7279\u5b9a\u75be\u75c5\u76f8\u5173\u7684\u57fa\u56e0\u96c6\uff09<\/div>\n
\u533b\u5b66\u5e94\u7528\u5916\u663e\u5b50\uff08\u660e\u786e\u62a5\u9053\u9057\u4f20\u76f8\u5173\u57fa\u56e0\u96c6\uff09<\/div>\n
WES\uff08whole exome sequencing, \u5916\u663e\u5b50\u5206\u6790\uff09<\/div>\n
WGS\uff08whole genome sequencing, \u5168\u57fa\u56e0\u7ec4\u5206\u6790\uff09<\/div>\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics36x68j4CJXrsNpjswt2AicjEefEicia3l2u7V9ZVbjxtafGbZKKln5pWhA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics36x68j4CJXrsNpjswt2AicjEefEicia3l2u7V9ZVbjxtafGbZKKln5pWhA.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u56fe\uff1a\u6839\u636eOMIM\u7edf\u8ba1NGS\u4e0e\u4f20\u7edf\u7814\u7a76\u53d1\u73b0\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u7684\u5bf9\u6bd4\uff0c2010\u5e74\u6765\u4f9d\u8d56NGS\u53d1\u73b0\u7684\u57fa\u56e0\u9010\u6e10\u589e\u52a0\uff0c2013\u5e74\u540eNGS\u53d1\u73b0\u7684\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u51e0\u4e4e\u662f\u4f20\u7edf\u65b9\u6cd5\u76843\u500d\u3002\u56fe\u7247\u6765\u81eaAJHG<\/div>\n
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\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3ribMZAp6iaek2FXdDk97ZRdmEmQWMNI1ace8hQCpQOibDy5sO5jxUoWvA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3ribMZAp6iaek2FXdDk97ZRdmEmQWMNI1ace8hQCpQOibDy5sO5jxUoWvA.png\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe\uff1a\u6839\u636eOrphanet\u7edf\u8ba1NGS\u53d1\u73b0\u75be\u75c5\u76f8\u5173\u7684\u65b0\u57fa\u56e0\u548c\u65b0\u75be\u75c5\u57fa\u56e0\uff0c\u4ece2010\u5e74\u5f00\u59cb\u6301\u7eed\u589e\u957f\uff0c\u4ece2013\u5e74\u6301\u7eed\u4e0b\u964d\u3002\u56fe\u7247\u6765\u81eaAJHG<\/div>\n
RGDs\u672f\u8bed\u3001\u5206\u7c7b\u3001\u6ce8\u91ca\u7b49\u6570\u636e\u5e93<\/div>\n
\u6570\u636e\u5e93<\/div>\n
\u7c7b\u578b<\/div>\n
\u6570\u636e\u5e93\u793a\u4f8b\u6ce8\u91caHPO, PhenomeCentral, 12 DECIPHER, the UK10K Project, OMIM, Ensembl, Reactome, IUPHAR, Geneatlas\u672f\u8bedHPO, PhenoDB, Orphanet, Elements of Morphology, POSSUM, SNOMED, MeSH, MedDRA,UniProtKB, HGNC\u5206\u7c7bICD-10\u5916\u663e\u5b50ExAC, ESP, 1000 Genome Project, gnomAD\u641c\u7d22GA4GH<\/div>\n
\u00a0<\/div>\n
\u57fa\u56e0\u8bca\u65ad\u6d41\u7a0b\u4e2d\u5f53\u524d\u7684\u74f6\u9888<\/div>\n
\u4e34\u5e8a\u6570\u636e<\/div>\n
\u975e\u7279\u5f02\u6027\u4e34\u5e8a\u8868\u73b0\uff08\u4f8b\u5982\u53d1\u80b2\u8fdf\u7f13\u548c\u4f4e\u5f20\u529b\uff09<\/div>\n
\u8d85\u7f55\u89c1\u4e14\u65e0\u6cd5\u8bc6\u522b\u7684\u9057\u4f20\u75c5<\/div>\n
\u7f3a\u4e4f\u6db5\u76d6\u4eba\u7c7b\u5b8c\u6574\u8303\u56f4\u7684\u672c\u4f53\u8bba<\/div>\n
\u8868\u578b<\/div>\n
\u672c\u4f53\u4f7f\u7528\u4e0d\u8db3\u62163D\u9762\u90e8\u8868\u60c5\u5206\u6790<\/div>\n
\u8868\u578b\u4e0d\u4e00\u81f4\u7684\u591a\u5b66\u79d1\u65b9\u6cd5\u5bf9\u60a3\u8005\u8bc4\u4f30<\/div>\n
\u65e0\u6cd5\u8bf4\u660e\u548c\u6bd4\u8f83\u5e74\u9f84\u7279\u5f02\u6027\u75be\u75c5\u4ecb\u7ecd<\/div>\n
\u57fa\u56e0\u7ec4\u6570\u636e<\/div>\n
WES\u7684\u6280\u672f\u9650\u5236\uff08\u4f8b\u5982\uff0cCNV\u548cSV\u4e0d\u80fd\u5f88\u597d\u5730\u6355\u83b7\uff09<\/div>\n
\u7f3a\u4e4f\u6807\u51c6\u5316\u7684\u6280\u672f\u548c\u4fe1\u606f\u5b66\u65b9\u6cd5<\/div>\n
\u4eba\u53e3\u7279\u5f02\u6027\u7684\u5bf9\u7167\u6570\u636e\u96c6\u4e0d\u5b8c\u5168<\/div>\n
\u6570\u636e\u6316\u6398\u548c\u5206\u4eab<\/div>\n
\u7f3a\u4e4f\u5e7f\u6cdb\u91c7\u7528\u7684\u6570\u636e\u5171\u4eab\u6846\u67b6<\/div>\n
\u7f3a\u4e4f\u5171\u540c\u7684\u6570\u636e\u5171\u4eab\u6807\u51c6<\/div>\n
\u7f3a\u4e4f\u7cfb\u7edf\u7684\u8bb0\u5f55\u6570\u636e\u4f7f\u7528\u6761\u4ef6\u7684\u65b9\u5f0f<\/div>\n
\u7f3a\u4e4f\u9690\u79c1\u4fdd\u62a4<\/div>\n
\u53c2\u52a0\u8005<\/div>\n
\u9057\u4f20\u8bc1\u636e<\/div>\n
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IRDiRC\u7684\u76ee\u6807\uff1a\u8bca\u65ad\u6240\u6709\u7684RGDs\uff0c\u9700\u8981\u53d1\u6398\u51fa\u6bcf\u4e2a\u75be\u75c5\u7684\u9057\u4f20\u673a\u5236\uff0c\u5305\u62ec\u4f46\u4e0d\u9650\u4e8e\uff1a<\/div>\n
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WGS\u7efc\u5408\u6d4b\u5e8f\u3001\u5206\u6790\u548c\u89e3\u8bfb\u7684\u6210\u672c\u5728\u4e07\u5143\u4eba\u6c11\u5e01\u7ea7\u522b\uff1bWES\u7ea6\u4e3a\u4e09\u5206\u4e4b\u4e00\uff0c\u5bf9\u4e8e\u666e\u901a\u4e34\u5e8a\u60a3\u8005\u6709\u4e00\u5b9a\u7684\u7ecf\u6d4e\u538b\u529b\u3002<\/div>\n
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————– \u4ee5\u4e0b\u4e3a\u5e7f\u544a\u65f6\u95f4————<\/div>\n
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\n![\"RmFicvQBAkgCpLNSKhJfzrThXbd7O5YcsdCVTECFsAOlkfK9pNXpUyXpGp8EpJwJq9dbBtGnSXIV0jJtEIQP24w\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgCpLNSKhJfzrThXbd7O5YcsdCVTECFsAOlkfK9pNXpUyXpGp8EpJwJq9dbBtGnSXIV0jJtEIQP24w.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n<\/div>\n
AImedExome\u662f\u4e13\u95e8\u9488\u5bf9\u4eba\u7c7b\u5e38\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u7684\u57fa\u56e0\u68c0\u6d4b\u4ea7\u54c1\uff0c\u57fa\u4e8eiGeneTechTM\u81ea\u4e3b\u7814\u53d1\u7684\u6db2\u76f8\u63a2\u9488\u6742\u4ea4\u6355\u83b7\u6280\u672fTargetSeq\u00ae\u7814\u53d1\uff0c\u9002\u914d\u4e8e\u76ee\u524d\u7684\u4e3b\u6d41\u9ad8\u901a\u91cf\u6d4b\u5e8f\u5e73\u53f0\u3002\u4ea7\u54c1\u76ee\u6807\u533a\u57df\u5927\u5c0f\u4e3a16.06MB\uff0c\u5305\u542b\u4e0e\u9057\u4f20\u75c5\u76f8\u5173\u76845083\u4e2a\u57fa\u56e0\u4ee5\u53ca181\u4e2a\u6709\u660e\u786e\u62a5\u9053\u7684\u81f4\u75c5\u4f4d\u70b9\uff0c \u6240\u6709\u81f4\u75c5\u57fa\u56e0\u53ca\u4f4d\u70b9\u4fe1\u606f\u5747\u6765\u81ea2017\u5e74OMIM\u3001HGMD\u00ae\u6570\u636e\u5e93\u6700\u65b0\u7248\u672c\u57fa\u56e0\u7ec4\u5750\u6807\uff0c\u5e76\u6709\u591a\u4e2a\u6743\u5a01\u75be\u75c5\u6570\u636e\u5e93\u53c2\u8003\u548c\u591a\u5bb6\u533b\u7597\u673a\u6784\u6307\u5bfc\uff0c\u7ed3\u679c\u66f4\u52a0\u7cbe\u51c6\u3002<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3nlz7ibb0K5Q9eNibHvd1DibPDCqdVRSq8wOpwGX2w0CwFjRQggQFiaIYJg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3nlz7ibb0K5Q9eNibHvd1DibPDCqdVRSq8wOpwGX2w0CwFjRQggQFiaIYJg.png\")
<\/figure><\/div>\n\n<\/div>\n
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\u9009\u7528\u4e2d\u56fd\u4eba\u7fa4\u591a\u7ec4\u5b66\u6807\u51c6\u7269\u8d28Chinese Quartet\uff08Fudan Cohrt\uff09\u8fdb\u884cGermline mutation QC\u8d28\u63a7\u9a8c\u8bc1\uff0c\u5e76\u4e14\u7ecf\u8fc7\u591a\u7ef4\u5ea6\u6570\u636e\u5bf9\u7167\uff0c\u68c0\u6d4b\u7ed3\u679c\u66f4\u52a0\u9002\u5408\u4e1c\u4e9a\u4eba\u7fa4\uff1b<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3GkiaCnHA1OWTUqCkPLvUzPpmAV5DQyXfibeTtlM8KFxKibibvdkXNx79eQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3GkiaCnHA1OWTUqCkPLvUzPpmAV5DQyXfibeTtlM8KFxKibibvdkXNx79eQ.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n<\/div>\n
\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3r97Y8xlqT7iaich6DrnzyhlzeJMNxqDVwN5FvClgt0Q3JmbI4t8w1XKQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3r97Y8xlqT7iaich6DrnzyhlzeJMNxqDVwN5FvClgt0Q3JmbI4t8w1XKQ.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u56fe\uff1a\u63a8\u8350\u6709\u9650\u6d4b\u5e8f\u6df1\u5ea6200\u00d7\uff0c\u5b9e\u6d4bDemo\u6570\u636e\u5982\u56fe\u6240\u793a<\/div>\n
<\/div>\n
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Kit\u8ba2\u8d2d\u591a\u89c4\u683c\u53ef\u9009\uff0c10\u4e2a\u5de5\u4f5c\u65e5\u5feb\u901f\u51fa\u8d27\uff1b<\/div>\n
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One on One \u5ba2\u6237\u7ecf\u7406\u670d\u52a1\uff0c\u4e13\u804c\u5b9e\u9a8c\u6280\u672f\u5de5\u7a0b\u5e08\u57f9\u8bad\u6307\u5bfc\uff0c24\u5c0f\u65f6\u5185\u54cd\u5e94\u4efb\u4f55\u95ee\u9898\u3002<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3wHhG5OXoiblFtBWc20oyo3VsWkrgwQKd6NHibaLyOCvtU620sLlsKkAA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3wHhG5OXoiblFtBWc20oyo3VsWkrgwQKd6NHibaLyOCvtU620sLlsKkAA.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u56fe\uff1aAImedExome\u4ea7\u54c1\u8ba2\u8d2d\u6d41\u7a0b<\/div>\n
<\/div>\n
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\u5173\u4e8e\u827e\u5409\u6cf0\u5eb7\u00ae<\/div>\n
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\n\n
\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3kBAiaj1eI8t6FhPW7vkqPmH8Xib8nfBAy8v0tau32zibibDgZvRmOG9Tlw\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3kBAiaj1eI8t6FhPW7vkqPmH8Xib8nfBAy8v0tau32zibibDgZvRmOG9Tlw.png\")
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\u901a\u8fc7\u4e34\u5e8a\u533b\u751f\u4e0e\u79d1\u7814\u5de5\u4f5c\u8005\u5927\u91cf\u7684\u4e34\u5e8a\u7ecf\u9a8c\u79ef\u7d2f\u4ee5\u53ca\u6743\u5a01\u6570\u636e\u5e93\u7684\u6821\u9a8c\uff0c\u786e\u5b9a\u76f8\u5173\u57fa\u56e0\u5217\u8868\uff0c\u5b9a\u5236\u7279\u5b9a\u9057\u4f20\u6027\u75be\u75c5\u7684\u4e13\u5c5ePanel\uff08\u5982\u9057\u4f20\u6027\u8033\u804b\u3001\u9057\u4f20\u4ee3\u8c22\u75c5\u3001\u795e\u7ecf\u808c\u8089\u75c5\u7b49\uff09\uff0c\u591a\u9002\u7528\u4e8e\u4e34\u5e8a\u7814\u7a76\u8f83\u4e3a\u900f\u5f7b\u3001\u81f4\u75c5\u57fa\u56e0\u53ca\u4e34\u5e8a\u8868\u578b\u5173\u8054\u8f83\u4e3a\u660e\u786e\u7684\u75be\u75c5\u3002<\/div>\n
<\/div>\n
\u533b\u5b66\u5e94\u7528\u7248\u5168\u5916\u663e\u5b50\u68c0\u6d4b\u8bd5\u5242\u76d2<\/div>\n
\u9488\u5bf9\u4e34\u5e8a\u8868\u578b\u590d\u6742\u7684\u79d1\u7814\u6837\u672c\uff0c\u827e\u5409\u6cf0\u5eb7\u00ae\u5b8c\u6210\u4e86\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u7684\u6574\u5408\uff0c\u5e76\u7814\u53d1\u4e86\u533b\u5b66\u5e94\u7528\u7248\u5168\u5916\u663e\u5b50\u68c0\u6d4b\u8bd5\u5242\u76d2\u4ea7\u54c1\uff08AImedExome\uff09\uff0c\u8be5\u4ea7\u54c1\u7528\u4e8e\u4e34\u5e8a\u8868\u578b\u4e0e\u75be\u75c5\u5173\u8054\u4e0d\u660e\u786e\u3001\u75be\u75c5\u4e9a\u578b\u786e\u8ba4\u3001\u4e34\u5e8a\u8868\u578b\u591a\u5143\u5316\u7684\u75be\u75c5\u8bca\u65ad\u4e0e\u7b5b\u67e5\uff0c\u5bf9\u4e8e\u590d\u6742\u9057\u4f20\u75be\u75c5\u7684\u8bca\u65ad\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002<\/div>\n
<\/div>\n
\u540c\u65f6\uff0c\u827e\u5409\u6cf0\u5eb7\u00ae\u5728\u4ea7\u54c1\u8d28\u63a7\u4e2d\u4e0d\u518d\u4f7f\u7528\u9ad8\u52a0\u7d22\u4eba\u7fa412878 DNA\u6807\u51c6\u54c1\uff0c\u800c\u662f\u9009\u7528\u4e2d\u56fd\u4eba\u7fa4\u591a\u7ec4\u5b66\u6807\u51c6\u7269\u8d28Chinese Quartet\uff08Fudan Cohrt\uff09\u8fdb\u884cGermline mutation QC\u8d28\u63a7\u9a8c\u8bc1\uff0c\u5e76\u4e14\u7ecf\u8fc7\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3001\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u3001\u8f6c\u5f55\u7ec4\u6d4b\u5e8f\u4ee5\u53ca\u57fa\u56e0\u5206\u578b\u7b49\u591a\u7ef4\u5ea6\u6570\u636e\u5bf9\u7167\uff0c\u8ba9AImedExome \u5728\u4e1c\u4e9a\u4eba\u7fa4\u4e2d\u5f97\u5230\u66f4\u52a0\u51c6\u786e\u3001\u5408\u7406\u4e0e\u771f\u5b9e\u7684\u8bba\u8bc1\uff0c\u4f7f\u8be5\u4ea7\u54c1\u771f\u6b63\u5b9e\u73b0\u4e2d\u56fd\u4eba\u7fa4\u533b\u5b66\u5e94\u7528\u4ef7\u503c\u3002<\/div>\n
<\/div>\n
AImedExome\u7684\u8be6\u7ec6\u4fe1\u606f\u3001\u6280\u672f\u8d44\u6599\u53ca\u4ea7\u54c1\u8ba2\u8d2d\u4e0e\u54a8\u8be2\uff0c\u8bf7\u81f4\u75354008 190 260\u3002<\/div>\n
<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1.\u00a0http:\/\/wric.com\/2017\/05\/06\/in-depth-hope-for-16-year-old-california-boy-fighting-rare-genetic-disease\/<\/div>\n
2.\u00a0http:\/\/www.smafoundation.org\/<\/div>\n
3.\u00a0http:\/\/www.curesma.org\/?referrer=http:\/\/www.curesma.org\/<\/div>\n
4.\u00a0https:\/\/www.mda.org\/disease\/spinal-muscular-atrophy<\/div>\n
5.\u00a0http:\/\/www.cell.com\/ajhg\/pdf\/S0002-9297(17)30147-7.pdf<\/div>\n
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\u60a8\u53ef\u80fd\u8fd8\u611f\u5174\u8da3\u7684<\/div>\n
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\u300a\u6167\u8bfe\u300b | OMIM\u6570\u636e\u5e93\u89c6\u9891\u4ecb\u7ecd<\/div>\n
\u300a\u6167\u8bfe\u300b | Phenolyzer\u8868\u578b<\/a>\u5206\u6790\u8f6f\u4ef6\u4ecb\u7ecd<\/div>\n
\u300a\u6167\u8bfe\u300b | \u987e\u5927\u592b\u4ecb\u7ecdCHPO<\/a><\/div>\n
\u300a<\/a>\u4e09\u4eba\u884c\u300b | \u534f\u548c\/\u5409\u56e0\u52a0\/\u4f18\u8baf\u533b\u5b66\u4e13\u5bb6\u8c08\u80bf\u7624\u7cbe\u51c6\u533b\u7597<\/a><\/div>\n
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<\/a><\/a>\u4e3a\u751f\u547d\u8ba1\u7b97\uff0c\u4ece\u57fa\u56e0\u5927\u6570\u636e\u5230\u4e34\u5e8a\u5e94\u7528<\/a><\/div>\n
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\n![\"RmFicvQBAkgC0avckNia9q4ZYtSsGWlTxlSjuIocJWRhNOLgBHDRXibCk61GiappiaVc0dMibibnFmEJxX1rA2ZR3wzGQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgC0avckNia9q4ZYtSsGWlTxlSjuIocJWRhNOLgBHDRXibCk61GiappiaVc0dMibibnFmEJxX1rA2ZR3wzGQ.gif\")
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\n![\"RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3yZcXP7OeskBkKTLic0ia4uyQjNGhpRuE33kv7lT3cPuxicCzXU7ZGMqDg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBicOicQvFu5myrw1PNqAmics3yZcXP7OeskBkKTLic0ia4uyQjNGhpRuE33kv7lT3cPuxicCzXU7ZGMqDg.png\")
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\u5173\u4e8e\u57fa\u56e0\u6167<\/div>\n
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\u7535\u8bdd\uff1a010-56527551 \/ 400-088-7466<\/div>\n
\u5730\u5740\uff1a\u5317\u4eac\u5e02\u6d77\u6dc0\u533a\u4e2d\u5173\u6751\u5927\u88571\u53f7<\/div>\n
\u5b98\u7f51\uff1awww.geneclub.net.cn<\/div>\n
\u90ae\u7bb1\uff1ainfo@genonet.cn<\/div>\n
<\/div>\n\n
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