\u5982\u9700\u8f6c\u8f7d\uff0c\u8bf7\u540e\u53f0\u8054\u7cfb\u6388\u6743<\/p>\n
\u4f34\u968f\u6d4b\u5e8f\u6210\u672c\u7684\u964d\u4f4e\u3001\u6d4b\u5e8f\u6280\u672f\u7684\u5feb\u901f\u53d1\u5c55\uff0c\u57fa\u56e0\u6570\u636e\u7684\u83b7\u53d6\u4e0d\u518d\u662f\u96be\u9898\uff0c\u9762\u5bf9\u6d77\u91cf\u57fa\u56e0\u6570\u636e\uff0c\u89e3\u8bfb\u73af\u8282\u6210\u9ad8\u539f\u5730\u5e26\uff0c\u57fa\u56e0\u89e3\u8bfb\u9700\u6c42\u6fc0\u589e\uff0c\u800c\u771f\u6b63\u5b9e\u73b0\u89e3\u8bfb\u73af\u8282\u7684\u4eba\u529b\u89e3\u653e\uff0c\u6570\u636e\u5e93\u6574\u5408\u662f\u57fa\u7840\uff01\u7ecf\u8fc7\u957f\u671f\u7684\u5b9e\u8df5\u548c\u79ef\u7d2f\uff0c\u6574\u5408\u4e86\u4e00\u4e9b\u6743\u5a01\u548c\u4e13\u4e1a\u7684\u6570\u636e\u89e3\u8bfb\u5e93\uff0c\u5206\u4eab\u7ed9\u5927\u5bb6\u3002<\/p>\n<\/p>\n
\u2742 HGMD(The Human Gene Mutation Database, HGMD\u00ae)<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\uff081\uff09\u7b80\u5355\u3001\u5feb\u901f\u786e\u8ba4\u5b9e\u9a8c\u5f97\u5230\u7684\u67d0\u79cd\u7a81\u53d8\u662f\u5426\u5df2\u88ab\u53d1\u73b0\uff0c\u662f\u5426\u662f\u5bfc\u81f4\u4eba\u7c7b\u9057\u4f20\u75be\u75c5\u7684\u539f\u56e0 <\/p>\n
\uff082\uff09\u83b7\u5f97\u67d0\u4e2a\u7279\u5b9a\u57fa\u56e0\u6216\u75be\u75c5\u7684\u81f4\u75c5\u7a81\u53d8\u8c31<\/p>\n
\uff083\uff09\u5feb\u901f\u67e5\u8be2\u4e0e\u4eba\u7c7b\u9057\u4f20\u75be\u75c5\u76f8\u5173\u7684\u7a81\u53d8\u4fe1\u606f\u7684\u6587\u732e<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/www.hgmd.\/ac\/index.php\u25bc<\/p>\n
\u2742 OMIM(Online Mendelian Inheritance in Man\u00ae)<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\uff081\uff09\u75be\u75c5\u4fe1\u606f\uff1a\u5305\u62ec\u75be\u75c5\u7684\u53d1\u73b0\u3001\u4e0e\u75be\u75c5\u76f8\u5173\u7684\u57fa\u56e0\u3001\u4e34\u5e8a\u7279\u5f81\u3001\u9057\u4f20\u65b9\u5f0f\u7b49\u8be6\u7ec6\u63cf\u8ff0<\/p>\n
\uff082\uff09\u57fa\u56e0\u4fe1\u606f\uff1a\u5305\u62ec\u57fa\u56e0\u5b9a\u4f4d\u3001\u4e0e\u57fa\u56e0\u76f8\u5173\u7684\u8868\u578b\u3001\u57fa\u56e0\u529f\u80fd\u3001\u7814\u7a76\u8fdb\u5c55\u7b49\u8be6\u7ec6\u63cf\u8ff0<\/p>\n
\uff083\uff09\u5e94\u7528\u65b9\u5411\uff1a\u57fa\u56e0\u4e0e\u8868\u578b\u5173\u7cfb\u6536\u5f55\uff0c\u9057\u4f20\u75c5\u5bb6\u7cfb\u7814\u7a76\u7b49<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/\/ \u25bc<\/p>\n
\u2742 ClinVar<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\uff081\uff09\u6570\u636e\u5e93\u6574\u5408\u9057\u4f20\u53d8\u5f02\u3001\u4e34\u5e8a\u8868\u578b\u3001\u652f\u6301\u8bc1\u636e\u4ee5\u53ca\u529f\u80fd\u6ce8\u89e3\u4e0e\u5206\u6790\u56db\u65b9\u9762\u7684\u4fe1\u606f<\/p>\n
\uff082\uff09\u91c7\u7528\u661f\u6807\u7cfb\u7edf\u6765\u8bc4\u4ef7\u7279\u5b9a\u7a81\u53d8\u5728\u75be\u75c5\u4e2d\u7684\u529f\u80fd\u6ce8\u91ca\u7b49\u7ea7<\/p>\n
\uff083\uff09\u8bb0\u8f7d\u6587\u732e\u4e2d\u53d8\u5f02\u4e0e\u75be\u75c5\/\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb\uff0c\u4e14\u6709\u6587\u732e\u6eaf\u6e90<\/p>\n
\u25bc \u7f51\u5740\uff1ahttps:\/\/www.ncbi.nlm.\/clinvar\/\u25bc<\/p>\n
\u2742 Orphanet<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u6536\u5f55\u4e86\u8fd16000\u79cd\u7f55\u89c1\u75c5\u7684\u5404\u79cd\u76f8\u5173\u4fe1\u606f\uff0c\u5305\u62ec\u8bca\u65ad\u3001\u6cbb\u7597\u548c\u62a4\u7406\u65b9\u6848\u7b49\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/www.\/consor\/cgi-bin\/index.php \u25bc<\/p>\n
\u2742 GeneReviews<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u4e3b\u8981\u805a\u7126\u4e8e\u5355\u57fa\u56e0\u9057\u4f20\u75c5\uff0c\u63d0\u4f9b\u5f53\u524d\u5173\u4e8e\u8bca\u65ad\u3001\u7ba1\u7406\u548c\u9057\u4f20\u54a8\u8be2\u7684\u75be\u75c5\u7279\u5f02\u6027\u4fe1\u606f\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttps:\/\/www.ncbi.nlm.\/books\/NBK1116\/\u25bc<\/p>\n
\u2742 CHPO\uff08\u4e2d\u6587\u4eba\u7c7b\u8868\u578b\u6807\u51c6\u7528\u8bed\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u5efa\u7acb\u4e2d\u6587\u4e34\u5e8a\u8868\u578b\u672f\u8bed\u6807\u51c6\uff0c\u6574\u5408\u76f8\u5173\u75be\u75c5\u77e5\u8bc6\u5e93\uff08OMIM\u548cORPHANET\uff09\uff0c\u5efa\u7acb\u8868\u578b\u4e0e\u75be\u75c5\u641c\u7d22\u5f15\u64ce\uff0c\u63a8\u52a8\u57fa\u56e0\u6570\u636e\u4e0e\u8868\u578b\u6570\u636e\u7684\u7cbe\u51c6\u8fde\u63a5\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/ \u25bc<\/p>\n
\u2742 DGV\uff08DATABASE OF GENOMIC VARIANTS\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u6536\u5f55\u4e86\u5065\u5eb7\u4eba\u7fa4\u4e2d\u5e8f\u5217\u957f\u5ea6\u5927\u4e8e50bp\u7684\u7ed3\u6784\u53d8\u5f02\uff0c\u4e14\u8fdb\u884c\u826f\u6027\u53d8\u5f02\u6ce8\u91ca\u3002<\/p>\n
\u25bc\u7f51\u5740\uff1ahttp:\/\/dgv.\/dgv\/app\/home \u25bc<\/p>\n
\u2742 DECIPHER<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u5173\u4e8e\u62f7\u8d1d\u6570\u53d8\u5f02\u7684\u5df2\u77e5\u7efc\u5408\u5f81\u53ca\u4e00\u4e9b\u75c5\u4f8b\u6536\u96c6\uff0c\u7528\u6237\u53ef\u4ee5\u901a\u8fc7\u68c0\u7d22\u6570\u636e\u5e93\uff0c\u53d1\u73b0\u4e00\u7cfb\u5217\u76f8\u5173\u7684\u9057\u4f20\u75be\u75c5\u4fe1\u606f\uff0c\u5305\u62ec\u53d8\u5f02\u4f4d\u70b9\u3001\u4e34\u5e8a\u8868\u578b\u7b49\uff0c\u63d0\u9ad8\u4e34\u5e8a\u8bca\u65ad\u6548\u80fd\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttps:\/\/decipher.\/index \u25bc<\/p>\n
\u2742 CNVD\uff08COPY NUMBER VARIATION IN DISEASE\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u6536\u5f55\u4e86\u4e0e\u75be\u75c5\u76f8\u5173\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\uff0c\u5305\u62ecCNV\u4f4d\u7f6e\u3001\u76f8\u5173\u75be\u75c5\u53ca\u76f8\u5173\u6587\u732e\u7b49\u4fe1\u606f\uff0c\u5bf9\u68c0\u6d4b\u5230\u7684CNV\u8fdb\u884c\u6709\u5bb3\u6027\u53d8\u5f02\u6ce8\u91ca\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/202.97.205.78\/CNVD\/\u25bc<\/p>\n
\u2742 GeneCard<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u5305\u62ec\u6307\u5411\u75be\u75c5\u7684\u5173\u7cfb\uff0c\u7a81\u53d8\u548c\u591a\u6001\u6027\uff0c\u57fa\u56e0\u8868\u8fbe\uff0c\u57fa\u56e0\u529f\u80fd\uff0c\u9014\u5f84\uff0c\u86cb\u767d\u8d28\u4e0e\u86cb\u767d\u8d28\u76f8\u4e92\u4f5c\u7528\uff0c\u76f8\u5173\u7684\u836f\u7269\u53ca\u5316\u5408\u7269\u548c\u5207\u5272\u7b49\u5148\u8fdb\u7684\u7814\u7a76\u6297\u4f53\u7684\u8bd5\u5242\u548c\u5de5\u5177\u7b49\uff0c\u91cd\u7ec4\u86cb\u767d\uff0c\u514b\u9686\uff0c\u8868\u8fbe\u5206\u6790\u548cRNAi\u8bd5\u5242\u7b49\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/www.\/ \u25bc<\/p>\n
\u2742 GHR\uff08Genetics Home Reference\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u5bf9\u57fa\u56e0\u7684\u529f\u80fd\u63cf\u8ff0\uff0c\u4e0e\u57fa\u56e0\u76f8\u5173\u7684\u75be\u75c5\u60c5\u51b5\u4ecb\u7ecd\u7b49\u3002<\/p>\n
\u25bc\u7f51\u5740\uff1a https:\/\/ghr.nlm.\/gene\/GHR<\/p>\n
\u2742 UniProt\uff08Universal Protein\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u4e3a\u4fe1\u606f\u6700\u4e30\u5bcc\u3001\u8d44\u6e90\u6700\u5e7f\u7684\u86cb\u767d\u8d28\u6570\u636e\u5e93\uff0c\u5b83\u7531\u6574\u5408Swiss-Prot\u3001TrEMBL\u548cPIR-PSD\u4e09\u5927\u6570\u636e\u5e93\u7684\u6570\u636e\u800c\u6210\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/www.\/uniprot\/\u25bc<\/p>\n
\u2742 DiseaseDX<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u65b9\u4fbf\u5feb\u901f\u5730\u67e5\u8be2\u75be\u75c5\u548c\u57fa\u56e0\u4fe1\u606f\uff0c\u5305\u62ec\u75c7\u72b6\u5206\u6790\u3001\u8bca\u65ad\u3001\u6cbb\u7597\u65b9\u6848\u7b49\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/diseasedx.\/ \u25bc<\/p>\n
\u2742 HPA\uff08Human Protein Atlas\uff09<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u81f4\u529b\u4e8e\u63d0\u4f9b\u5168\u90e824,000\u79cd\u4eba\u7c7b\u86cb\u767d\u8d28\u7684\u7ec4\u7ec7\u548c\u7ec6\u80de\u5206\u5e03\u4fe1\u606f\uff0c\u5e76\u514d\u8d39\u63d0\u4f9b\u516c\u4f17\u67e5\u8be2<\/p>\n
\u25bc \u7f51\u5740\uff1a https:\/\/www.\/\u25bc<\/p>\n
\u2742 InterVar<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u53ef\u4ee5\u5b9e\u73b0\u5bf9ACMG 28\u6761\u5224\u8bfb\u6807\u51c6\u4e2d\u768418\u6761\u8fdb\u884c\u81ea\u52a8\u5316\u8bc4\u5206\uff0c\u5176\u4f5910\u6761\u7531\u4e8e\u9700\u8981\u540e\u7eed\u8bc1\u636e\u8f93\u5165\u6216\u8005\u53c2\u6570\u8c03\u6574\uff08\u4f8b\u5982Sanger\u6d4b\u5e8f\u9a8c\u8bc1\u7ed3\u679c\uff09\uff0c\u56e0\u6b64\u81ea\u52a8\u5224\u8bfb\u5b8c\u6210\u540e\u7684\u7b2c\u4e8c\u6b65\u5373\u4e3a\u4eba\u5de5\u5ba1\u6821\u548c\u8c03\u6574\uff0c\u5bf9\u4e8e\u5f97\u5230\u6700\u7ec8\u5224\u8bfb\u7ed3\u8bba\u662f\u5fc5\u4e0d\u53ef\u5c11\u7684\u3002\u5728\u4f7f\u7528InterVar\u65f6\uff0c\u65e2\u53ef\u4ee5\u76f4\u63a5\u8c03\u7528ANNOVAR\u6765\u8fd0\u884c\u6ce8\u91ca\u6d41\u7a0b\uff0c\u4e5f\u53ef\u4ee5\u8f93\u5165\u5176\u5b83\u6ce8\u91ca\u8f6f\u4ef6\u7684\u7ed3\u679c\u6587\u4ef6\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/wintervar.\/ \u25bc<\/p>\n
\u2742 VarCards<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\uff081\uff09\u57fa\u56e0\u53d8\u5f02\u5bf9\u8f6c\u5f55\u672c\u3001\u86cb\u767d\u8d28\u7684\u5f71\u54cd<\/p>\n
\uff082\uff09\u57fa\u4e8e\u751f\u4fe1\u8f6f\u4ef6\u5bf9\u57fa\u56e0\u53d8\u5f02\u81f4\u75c5\u6027\u7684\u9884\u6d4b<\/p>\n
\uff083\uff09\u57fa\u56e0\u53d8\u5f02\u5728\u4e0d\u540c\u4eba\u7fa4\u4e2d\u7684\u7a81\u53d8\u9891\u7387<\/p>\n
\uff084\uff09\u57fa\u56e0\u53d8\u5f02\u76f8\u5173\u7684\u75be\u75c5\u4e0e\u8868\u578b<\/p>\n
\uff085\uff09\u57fa\u56e0\u4e0e\u836f\u7269\u7684\u4ea4\u4e92\u4fe1\u606f<\/p>\n
\uff086\uff09\u57fa\u56e0\u7684\u529f\u80fd\u3001\u8868\u8fbe\u6c34\u5e73\uff0c\u5206\u5b50\u901a\u8def\uff0c\u4fdd\u5b88\u578b\u4ee5\u53ca\u76f8\u5173\u75be\u75c5\u7b49\u4fe1\u606f<\/p>\n
\u25bc \u7f51\u5740\uff1a http:\/\/varcards.\/ \u25bc<\/p>\n
\u2742 Pubvar<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u6574\u5408\u4e86\u5341\u591a\u4e2a\u4eba\u7c7b\u57fa\u56e0\u53d8\u5f02\u6570\u636e\u5e93\uff0c\u5305\u542b50\u591a\u9879\u6ce8\u91ca\u4fe1\u606f\u3002<\/p>\n
\u25bc\u7f51\u5740\uff1ahttps:\/\/www.\/ \u25bc<\/p>\n
\u2742 Phenolyzer<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u6839\u636e\u4e34\u5e8a\u8868\u578b\u5224\u65ad\u81f4\u75c5\u57fa\u56e0<\/p>\n
\u25bc\u7f51\u5740\uff1ahttp:\/\/phenolyzer.\/ \u25bc<\/p>\n
\u2742 Phenomizer<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u7531\u4e34\u5e8a\u8868\u578b\u5173\u8054\u5019\u9009\u57fa\u56e0<\/p>\n
\u25bc\u7f51\u5740\uff1ahttp:\/\/compbio.\/phenomizer\/\u25bc<\/p>\n
\u2742 FindZebra<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u4e3a\u7f55\u89c1\u75c5\u9886\u57df\u7684\u4e34\u5e8a\u533b\u751f\u53ca\u7814\u7a76\u8005\u63d0\u4f9b\u8bf8\u5982\u75c7\u72b6\u641c\u7d22\u53ca\u7b5b\u9009\u3001\u67e5\u770b\u57fa\u56e0\u7b49\u529f\u80fd\u3002\u7d22\u5f15\u6570\u636e\u5e93\u5305\u62ecOMIM, Orphanet, GARD, NORD\u7b49\u5728\u5185\uff0c\u8986\u76d67\u5343\u591a\u79cd\u7f55\u89c1\u75be\u75c5\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/www.\/ \u25bc<\/p>\n
\u2742 Rare Disease in china<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u53d1\u5e03\u548c\u62a5\u9053\u56fd\u5185\u5916\u7f55\u89c1\u75c5\u533b\u5b66\u3001\u7814\u7a76\u3001\u7ec4\u7ec7\u6d3b\u52a8\u3001\u653f\u7b56\u7b49\u4fe1\u606f\uff0c\u5305\u62ec\u7f55\u89c1\u75c5\u767e\u79d1\u3001\u7f55\u89c1\u75c5\u60a3\u8005\u4fe1\u606f\u767b\u8bb0\u7cfb\u7edf\u548c\u4e2d\u56fd\u7f55\u89c1\u75c5\u533b\u7597\u5730\u56fe\u4e09\u5927\u6838\u5fc3\u6570\u636e\u5e93\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/www.\/index!index.action\u25bc<\/p>\n
\u2742 CrowdMed<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
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\u25bc \u7f51\u5740\uff1ahttps:\/\/www.\/\u25bc<\/p>\n
\u2742 SPIDEX<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
SPIDEX\u6570\u636e\u5e93\u7efc\u5408\u4e86\u4e00\u7cfb\u5217\u7684\u57fa\u56e0\u7a81\u53d8\u548c\u5bf9\u4eba\u7c7b\u57fa\u56e0\u7ec4RNA\u62fc\u63a5\u7684\u9884\u671f\u5f71\u54cd\uff0c\u53ea\u9700\u5c06\u6d4b\u5e8f\u7ed3\u679c\u548c\u7ec6\u80de\u7c7b\u578b\u5bfc\u5165\uff0cSPIDEX \u4fbf\u53ef\u5206\u6790\u51fa\u67d0\u4e00\u53d8\u5f02\u5bf9RNA\u526a\u5207\u7684\u5f71\u54cd\uff0c\u5e76\u8ba1\u7b97\u51fa\u8be5\u53d8\u5f02\u4e0e\u75be\u75c5\u4e4b\u95f4\u7684\u5173\u7cfb\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/tools.genes.\/\u25bc<\/p>\n
\u2742 gnomAD<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u4e3a\u76ee\u524d\u6700\u5927\u7684\u4eba\u7fa4\u9891\u7387\u6ce8\u91ca\u6570\u636e\u5e93\uff0c\u8be5\u6570\u636e\u5e93\u63d0\u4f9b\u7684\u6570\u636e\u96c6\u5305\u62ec123,136\u4e2a\u6837\u672c\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u6570\u636e\u548c15,496\u4e2a\u6837\u672c\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6570\u636e\uff0c\u8fd9\u4e9b\u6570\u636e\u6765\u6e90\u4e8e\u5404\u79cd\u75be\u75c5\u7814\u7a76\u9879\u76ee\u53ca\u5927\u578b\u4eba\u7fa4\u6d4b\u5e8f\u9879\u76ee\u3002<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/gnomad.\/\u25bc<\/p>\n
\u2742 ECARUCA<\/p>\n
\u529f\u80fd\uff1a<\/p>\n
\u4e3a\u81f4\u75c5\u6027CNV\u8bc4\u4f30\u53c2\u8003\u6570\u636e\u5e93<\/p>\n
\u25bc \u7f51\u5740\uff1ahttp:\/\/umcecaruca01.extern.:8080\/ecaruca\/ecaruca.jsp\u25bc<\/p>\n
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\u2026 \u2026\u672a\u5b8c\u5f85\u7eed\u2026 \u2026<\/p>\n
CEO\u5bc4\u8bed<\/p>\n
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