{"id":11001,"date":"2017-03-04T12:39:08","date_gmt":"2017-03-04T04:39:08","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100000427&#038;idx=1&#038;sn=9dcc4c3c85b04925f61167773c4c136a&#038;chksm=6b72b01c5c05390a2f3c5fd1489dffefe30bf6b3c657239dbd654ab87d5c62602969f93793a6#rd"},"modified":"2026-04-09T10:48:20","modified_gmt":"2026-04-09T02:48:20","slug":"10050100","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/03\/04\/10050100\/","title":{"rendered":"\u6167\u8bfe05 | \u65af\u5766\u798f\u5927\u5b66\u9a6c\u6b23\u7814\u7a76\u5458\u89c6\u9891\u4ecb\u7ecdClinVar\u6570\u636e\u5e93"},"content":{"rendered":"<p><!-- wechat_content_hash: d2d130416cc9de08 --><\/p>\n<div>\u6167\u8bfe<\/div>\n<div>ClinVar &#8211;\u65af\u5766\u798f\u5927\u5b66\u7814\u7a76\u5458\u9a6c\u6b23<\/div>\n<div><\/div>\n<div>\u5173\u952e\u8bcd\uff1aClinVar \u00a0\u9057\u4f20\u53d8\u5f02\u6570\u636e\u5e93<\/div>\n<div>\u9605\u8bfb\u7528\u65f6\uff1a\u7ea619\u5206\u949f\uff0c\u542b\u89c6\u9891\u7ea617\u5206\u949f<\/div>\n<div>\u5185\u5bb9\u7b80\u4ecb\uff1a\u8de8\u5b66\u79d1\u7684\u7cbe\u51c6\u533b\u5b66\u5728\u6280\u672f\u8f6c\u5316\u548c\u4e34\u5e8a\u843d\u5730\u65f6\uff0c\u6570\u636e\u5206\u6790\u5de5\u5177\u548c\u8f85\u52a9\u8bca\u65ad\u5e73\u53f0\u8d77\u6765\u91cd\u8981\u7684\u8fde\u63a5\u4f5c\u7528\u3002\u57fa\u4e8e\u6b64\uff0c\u57fa\u56e0\u6167\u5efa\u7acb\u300a\u6167\u8bfe\u300b\u5e73\u53f0\uff0c\u9080\u8bf7\u9876\u5c16\u7684\u4e13\u5bb6\u89c6\u9891\u4ecb\u7ecd\u4e1a\u754c\u5e38\u7528\u5de5\u5177\u548c\u5e73\u53f0\u7b80\u77ed\u6559\u7a0b\uff0c\u63d0\u9ad8\u534f\u4f5c\u6548\u7387\uff0c\u6b22\u8fce\u6307\u6b63\u3001\u53c2\u4e0e\u3002<\/div>\n<div><\/div>\n<div>\u00a0 \u00a0 \u57fa\u56e0\u68c0\u6d4b\u5728\u4e34\u5e8a\u5e94\u7528\u4e2d\u53d7\u5230\u8d8a\u6765\u8d8a\u591a\u7684\u5173\u6ce8\uff0c\u800c\u5927\u90e8\u5206\u57fa\u56e0\u68c0\u6d4b\u6570\u636e\u5206\u6790\u8f6f\u4ef6\u6216\u751f\u7269\u4fe1\u606f\u5de5\u5177\u6709\u4e00\u5b9a\u64cd\u4f5c\u95e8\u69db\uff0c\u800c\u4e14\u662f\u82f1\u6587\u754c\u9762\uff0c\u5bf9\u4e8e\u56fd\u5185\u5f88\u591a\u4e34\u5e8a\u533b\u751f\u800c\u8a00\u4f7f\u7528\u4ee5\u53ca\u8f6f\u4ef6\u672c\u8eab\u7684\u63a8\u5e7f\u6709\u4e00\u5b9a\u7684\u74f6\u9888\u3002\u5728\u738b\u4f1f\u8001\u5e08\u7684\u6307\u5bfc\u4e0b\uff0c\u57fa\u56e0\u6167\u7ec4\u7ec7\u884c\u4e1a\u4e13\u5bb6\u5bf9\u5e38\u7528\u751f\u7269\u4fe1\u606f\u5de5\u5177\u8fdb\u884c\u4e2d\u6587\u64cd\u4f5c\u89c6\u9891\u5f55\u5236\u7cfb\u5217\u6d3b\u52a8\u3002<\/div>\n<div>\u00a0 \u00a0 \u00a0 \u7b2c\u4e94\u671f\u9080\u8bf7\u4e86\u9a6c\u6b23\u8001\u5e08\uff0c\u89c6\u9891\u4ecb\u7ecdClinVar\uff0c\u5e76\u8bb2\u89e3\u9057\u4f20\u53d8\u5f02\u6570\u636e\u5e93\u2014\u2014ClinVar\u7684\u4f7f\u7528\u3002<\/div>\n<div><\/div>\n<div>\u56de\u987e\uff1a\u00a0\u00a0\u00a0<\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247483668&amp;idx=1&amp;sn=7fddff8162f1b0ea3d17d9f90ee9f764&amp;chksm=eb72b3a3dc053ab5fa377478595111e09d812231a75d9d8a6722df1f453c2c7597178a41f4b8&amp;scene=21#wechat_redirect\" \/>01. OMIM\u9057\u4f20\u75c5\u6570\u636e\u5e93&#8211; \u8d39\u57ce\u513f\u7ae5\u533b\u9662\u90ed\u4e00\u7136\u535a\u58eb<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247483753&amp;idx=2&amp;sn=af2fd38b56e751df5e3b02fa2cc4131b&amp;chksm=eb72b3dedc053ac88f426da8c2271787fa2cadf14bf4e7fa21d95576357bff5c3f4fd4e855bd&amp;scene=21#wechat_redirect\" \/>02. Phenolyzer\u8868\u578b\u5206\u6790\u5de5\u5177 &#8212; \u54e5\u4f26\u6bd4\u4e9a\u5927\u5b66\u738b\u51ef\u6559\u6388<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247483775&amp;idx=1&amp;sn=cb0d8951d378dea8260bffe4bb1f316e&amp;chksm=eb72b3c8dc053adeccabf96c34f7038324da8682d3fdb09d886de078b2303010be8da66c56db&amp;scene=21#wechat_redirect\" \/>03. wANNOVAR\u57fa\u56e0\u7a81\u53d8\u529f\u80fd\u6ce8\u91ca\u8f6f\u4ef6&#8211; \u54e5\u4f26\u6bd4\u4e9a\u5927\u5b66\u738b\u51ef\u6559\u6388<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247483879&amp;idx=1&amp;sn=936c32af46265e8a68cc5e12f5aa325e&amp;chksm=eb72b350dc053a46a3ff996eccb619ce8e83b0636a54bf1cd2e020635bd9feb215d21769610e&amp;scene=21#wechat_redirect\" \/>04. CHPO\u4e2d\u6587\u4eba\u7c7b\u8868\u578b\u4e0e\u57fa\u56e0\u578b\u641c\u7d22\u5f15\u64ce&#8211;\u4e2d\u65e5\u53cb\u597d\u533b\u9662\u987e\u536b\u7ea2\u5927\u592b<\/a><\/div>\n<div><\/div>\n<div><\/div>\n<div>\u7b2c\u4e94\u671f\u89c6\u9891\u7b80\u4ecb<\/div>\n<div><\/div>\n<div>1. \u9a6c\u6b23\u7b80\u4ecb<\/div>\n<div><\/div>\n<div>\u9a6c\u6b23\uff0c\u5eb7\u5948\u5c14\u5927\u5b66\u7edf\u8ba1\u7cfb\u535a\u58eb\uff0c\u73b0\u4efb\u65af\u5766\u798f\u5927\u5b66\u7814\u7a76\u5458\uff0c\u5e08\u4ece\u7f8e\u56fd\u79d1\u5b66\u9662\u9662\u58eb\u738b\u6c38\u96c4\u9662\u58eb\u53ca\u65af\u5766\u798f\u533b\u5b66\u5927\u6570\u636e\u7cfb\u7cfb\u4e3b\u4efbCarlos Bustamante \u3002\u62e5\u6709\u591a\u5e74\u7684\u57fa\u56e0\u7ec4\u5b66\u7814\u7a76\u548c\u6570\u636e\u6316\u6398\u7ecf\u9a8c\uff0c\u5728\u57fa\u56e0\u7ec4\u5b66\u7684\u7b97\u6cd5\u548c\u9ad8\u7ef4\u5927\u6570\u636e\u5206\u6790\u9886\u57df\u505a\u51fa\u8fc7\u7a81\u51fa\u8d21\u732e, \u5de5\u4f5c\u66fe\u53d1\u8868\u5728PNAS\uff0cNature\uff0c Cell \u5b50\u520a\u7b49\u6838\u5fc3\u520a\u7269\u3002 \u62c5\u4efb\u7f8e\u56fd\u73b0\u9636\u6bb5\u6700\u5927\u7684\u7cbe\u51c6\u533b\u7597\u9879\u76eeMVP\u767e\u4e07\u8001\u5175pilot study\u57fa\u56e0\u7ec4\u6570\u636e\u5206\u6790\u7684\u4e3b\u8981\u8d1f\u8d23\u4eba\u3002<\/div>\n<div><\/div>\n<div>2.ClinVar\u7b80\u4ecb<\/div>\n<div><\/div>\n<div>\u5bf9\u4e8e\u6d4b\u5e8f\u6570\u636e\u7684\u89e3\u8bfb\uff0c \u5176\u4e2d\u975e\u5e38\u5173\u952e\u7684\u4e00\u4e2a\u73af\u8282\u5c31\u662f\u57fa\u4e8e\u5df2\u6709\u7684\u6587\u7ae0\u548c\u6d4b\u5e8f\u4eba\u7fa4\u6570\u636e\uff0c \u5224\u65ad\u4f4d\u70b9\u7684\u81f4\u75c5\u6027\u3002\u800c\u4e00\u4e2a\u96c6\u4e2d\u7684\u6743\u5a01\u7684\u6574\u7406\u4e34\u5e8a\u533b\u5b66\u76f8\u5173\u57fa\u56e0\u7a81\u53d8\u4f4d\u70b9\u7684\u6570\u636e\u5e93\u975e\u5e38\u6709\u5fc5\u8981\u3002<\/div>\n<div>\u4e34\u5e8a\u9057\u4f20\u5b66\u7528\u5230\u7684\u6700\u591a\u7684\u5176\u4e2d\u4e00\u4e2a\u5c31\u662f ClinVar\uff08Clinical relevant Variants).<\/div>\n<div>ClinVar \u662f\u7f8e\u56fdNCBI\u4e3b\u529e\u7684\u548c\u4e34\u5e8a\u76f8\u5173\u7684\u57fa\u56e0\u7a81\u53d8\u6570\u636e\u5e93,\u00a0 \u4e5f\u662f ACMG \u57fa\u56e0\u6570\u636e\u89e3\u8bfb\u6307\u5357\u63a8\u8350\u4f7f\u7528\u7684\u53ef\u9760\u6570\u636e\u6e90\u4e4b\u4e00\u3002<\/div>\n<div><\/div>\n<div>\u5728\u7ebf\u7f51\u5740\uff1a<a style=\"font-size: 14px; color: rgb(0, 0, 0); text-decoration: none;\">https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/<\/a><\/div>\n<div><\/div>\n<div>\u76f8\u5173\u6587\u732e\uff1a<\/div>\n<div>1. Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin-Salomon R, Rubinstein W, Maglott DR. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8.<\/div>\n<div>2. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014 Jan 1;42(1):D980-5.\u00a0<\/div>\n<div>3. Melissa Landrum, PhD, Jennifer Lee, PhD, George Riley, PhD, Wonhee Jang, PhD, Wendy Rubinstein, MD, PhD, Deanna Church, PhD, and Donna Maglott, PhD. ClinVar. <a style=\"font-size: 14px; color: rgb(0, 0, 0); text-decoration: none;\">http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK174587\/<\/a><\/div>\n<div><\/div>\n<div><\/div>\n<div>3.Clinvar\u4ecb\u7ecd\u53ca\u4f7f\u7528<\/div>\n<div>\uff08\u7ea617\u5206\u949f\uff0c\u5efa\u8bae\u5728wifi\u73af\u5883\u4e0b\u89c2\u770b\uff09<\/div>\n<div>\u76ee\u5f55\uff1a<\/div>\n<div>1. ClinVar\u6570\u636e\u5e93\u7684\u5b97\u65e8\u548c\u4e3b\u8981\u6570\u636e\u6765\u6e90<\/div>\n<div>2. Search(\u641c\u7d22)<\/div>\n<div>3. Data Display\uff08\u7ed3\u679c\u663e\u793a\uff09\u7684\u89e3\u8bfb<\/div>\n<div>4. ftp\u6279\u91cf\u4e0b\u8f7d<\/div>\n<div><\/div>\n<div><iframe frameborder=\"0\" src=\"https:\/\/v.qq.com\/txp\/iframe\/player.html?vid=m03789y9j98\" allowFullScreen=\"true\"><\/iframe><\/div>\n<div><\/div>\n<div><\/div>\n<div>\u58f0\u660e<\/div>\n<div>1. \u00a0\u57fa\u56e0\u6167\u79c9\u6301\u4e25\u8c28\u3001\u5ba2\u89c2\u3001\u4e2d\u7acb\u7684\u6001\u5ea6\u7ec4\u7ec7\u7b56\u5212\u548c\u5236\u4f5c\u672c\u671f\u89c6\u9891\uff0c\u867d\u529b\u6c42\u5b8c\u7f8e\uff0c\u4f46\u96be\u514d\u6709\u7455\u75b5\uff0c\u6b22\u8fce\u6307\u6b63\u3002\u4ee5\u4e0a\u5185\u5bb9\u4ec5\u4ee3\u8868\u5609\u5bbe\u4e2a\u4eba\u89c2\u70b9\uff08\u7ecf\u5609\u5bbe\u5ba1\u6838\uff09\uff0c\u4e0d\u4ee3\u8868\u57fa\u56e0\u7acb\u573a\u3002\u00a0<\/div>\n<div><\/div>\n<div>2. \u4ee5\u4e0a\u5185\u5bb9\u662f\u57fa\u56e0\u6167\u7b56\u5212\u3001\u9080\u8bf7\u884c\u4e1a\u4e13\u5bb6\u53c2\u4e0e\u5f55\u5236\u3002\u7248\u6743\u5c5e\u4e8e\u4f5c\u8005\u548c\u57fa\u56e0\u6167\uff08\u5317\u4eac\u57fa\u56e0\u754c\u79d1\u6280\u4fe1\u606f\u54a8\u8be2\u6709\u9650\u516c\u53f8\uff09\u3002\u6b22\u8fce\u8f6c\u53d1\u5230\u670b\u53cb\u5708\uff1b\u8f6c\u8f7d\u8bf7\u8054\u7cfb\u540e\u53f0\u3002<\/div>\n<div><\/div>\n<div><\/div>\n<div><\/div>\n<div>\u884c\u7814\u3001\u54a8\u8be2\u3001\u4f1a\u8bae\u3001\u54c1\u5ba3\uff1a<\/div>\n<div>\u7535\u8bdd\uff1a010-56527551 \/ 400-088-7466<\/div>\n<div>\u5730\u5740\uff1a\u5317\u4eac\u5e02\u6d77\u6dc0\u533a\u4e2d\u5173\u6751\u5927\u88571\u53f7<\/div>\n<div>\u5b98\u7f51\uff1awww.geneclub.net.cn<\/div>\n<div>\u90ae\u7bb1\uff1ainfo@genonet.cn<\/div>\n<div><\/div>\n<div><\/div>\n<div><\/div>\n<div>\u57fa\u56e0\u6167<\/div>\n<div>\u7cbe\u51c6\u533b\u7597<\/div>\n<div>\u884c\u4e1a\u8fde\u63a5\u5668<\/div>\n<div>\u00a0 \u00a0\u957f\u6309\u5173\u6ce8 \u00a0 \u00a0<\/div>\n<div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgByqibsuS58CnI2vk4hgZkicpfiaBx0YwKsozDuUpwiaDY48W79tu4A8VgxOR9kReYspQGtUiaGYcCCdMQ.jpeg\" alt=\"RmFicvQBAkgByqibsuS58CnI2vk4hgZkicpfiaBx0YwKsozDuUpwiaDY48W79tu4A8VgxOR9kReYspQGtUiaGYcCCdMQ\"\/><\/figure><\/div>\n\n<\/div>","protected":false},"excerpt":{"rendered":"<p>\u57fa\u56e0\u6167\u51fa\u54c1<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[1659,2183],"class_list":["post-11001","post","type-post","status-publish","format-standard","hentry","category-industryresearch","tag-1659","tag-2183"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11001","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=11001"}],"version-history":[{"count":2,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11001\/revisions"}],"predecessor-version":[{"id":14562,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11001\/revisions\/14562"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=11001"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=11001"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=11001"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}