{"id":1285,"date":"2019-10-29T09:44:25","date_gmt":"2019-10-29T01:44:25","guid":{"rendered":"http:\/\/www.hngenetics.org\/?p=1285"},"modified":"2019-10-29T09:44:25","modified_gmt":"2019-10-29T01:44:25","slug":"%e4%b8%ad%e5%8d%97%e5%a4%a7%e5%ad%a6%e6%9d%8e%e6%b4%a5%e8%87%a3%e3%80%81%e5%94%90%e5%8c%97%e6%b2%99%e3%80%81%e5%a4%8f%e6%98%86%e5%90%88%e4%bd%9c%e5%9b%a2%e9%98%9fnucleic-acids-research%e5%8f%91","status":"publish","type":"post","link":"http:\/\/www.hngenetics.org\/?p=1285","title":{"rendered":"\u4e2d\u5357\u5927\u5b66\u674e\u6d25\u81e3\u3001\u5510\u5317\u6c99\u3001\u590f\u6606\u5408\u4f5c\u56e2\u961fNucleic Acids Research\u53d1\u8868\u4eba\u7c7b\u65b0\u53d1\u7a81\u53d8\u6570\u636e\u5e93\u4e0e\u5206\u6790\u5e73\u53f0Gene4Denovo"},"content":{"rendered":"\n<p>2019\u5e7410\u670823\u65e5\uff0c\u82f1\u56fd\u725b\u6d25\u5927\u5b66\u51fa\u7248\u793e\u65d7\u4e0b\u7684\u6838\u9178\u53ca\u751f\u7269\u4fe1\u606f\u5b66\u9886\u57df\u6743\u5a01\u671f\u520a\u300a\u6838\u9178\u7814\u7a76\u300b\uff08Nucleic Acids Research\uff0cIF=11.147\uff09\u5728\u7ebf\u53d1\u8868\u4e86\u4e2d\u5357\u5927\u5b66\u674e\u6d25\u81e3\u7814\u7a76\u5458\u3001\u5510\u5317\u6c99\u6559\u6388\u3001\u590f\u6606\u6559\u6388\u5408\u4f5c\u56e2\u961f\u6700\u65b0\u7814\u7a76\u6210\u679c\u2014\u2014\u300aGene4Denovo: an integrated database and analytic platform for de novo mutations in humans\u300b\u3002\u8be5\u7814\u7a76\u5168\u7403\u53d1\u5e03\u4e86\u8fc4\u4eca\u6700\u5168\u9762\u7684\u4eba\u7c7b\u65b0\u53d1\u7a81\u53d8\u6570\u636e\u5e93\u53ca\u5206\u6790\u5e73\u53f0Gene4Denovo (<a href=\"http:\/\/www.genemed.tech\/gene4denovo\">http:\/\/www.genemed.tech\/gene4denovo<\/a>)\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"474\" src=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2019\/10\/lijingcheng-1024x474.png\" alt=\"\" class=\"wp-image-1286\" srcset=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2019\/10\/lijingcheng-1024x474.png 1024w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2019\/10\/lijingcheng-300x139.png 300w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2019\/10\/lijingcheng-768x355.png 768w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2019\/10\/lijingcheng.png 1269w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>\u65b0\u53d1\u7a81\u53d8\uff08de novo 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href=\"http:\/\/varcards.biols.ac.cn\">http:\/\/varcards.biols.ac.cn<\/a>\uff09\uff0c\u5bf9\u6240\u6709\u65b0\u53d1\u7a81\u53d8\u6309\u7167\u7edf\u4e00\u6807\u51c6\u8fdb\u884c\u6ce8\u91ca\uff0c\u8bc4\u4f30\u81f4\u75c5\u6027\u3002\u6574\u5408\u5206\u6790\u4e00\u5171\u7b5b\u9009\u5230675\u4e2a\u5019\u9009\u57fa\u56e0\uff0c\u5305\u62ec346\u4e2a\u53ef\u4fe1\u5ea6\u8f83\u9ad8\u7684\u81f4\u75c5\u57fa\u56e0\u3002Gene4Denovo\u6574\u5408\u4e8660\u591a\u4e2a\u5e38\u7528\u7684\u57fa\u56e0\u7ec4\u5b66\u6570\u636e\u5e93\uff0c\u4ece\u78b1\u57fa\u53d8\u5f02\u6c34\u5e73\u548c\u57fa\u56e0\u6c34\u5e73\u6ce8\u91ca\u76f8\u5173\u5982\u4e0b\u57fa\u56e0\u4fe1\u606f\uff1a\uff081\uff09\u53d8\u5f02\uff08\u5305\u62ec\u65e0\u4e49\u7a81\u53d8\u3001\u9519\u4e49\u7a81\u53d8\u3001\u540c\u4e49\u7a81\u53d8\u548c\u6846\u79fb\u7a81\u53d8\u7b49\uff09\u529f\u80fd\u5f71\u54cd\uff1b\uff082\uff09\u57fa\u56e0\u53ca\u7a81\u53d8\u7684\u75be\u75c5-\u8868\u578b\u76f8\u5173\u4fe1\u606f\uff1b\uff083\uff09\u5229\u752824\u6b3e\u8f6f\u4ef6\u5206\u6790\u9884\u6d4b\u7a81\u53d8\u4f4d\u70b9\u7684\u81f4\u75c5\u6027\uff1b\uff084\uff09\u4e0d\u540c\u4eba\u7fa4\u4e2d\u7b49\u4f4d\u57fa\u56e0\u7684\u9891\u7387\uff1b\uff085\uff09\u57fa\u56e0\u6c34\u5e73\u6ce8\u91ca\u4fe1\u606f\uff0c\u5982\u86cb\u767d\u8d28\u5e8f\u5217\u3001\u86cb\u767d\u76f8\u4e92\u4f5c\u7528\u7f51\u7edc\u3001\u4eba\u8111\u4e2d\u7684\u57fa\u56e0\u8868\u8fbe\u6c34\u5e73\u7b49\uff1b\uff086\uff09\u836f\u7269\u57fa\u56e0\u76f8\u4e92\u4f5c\u7528\u548c\u836f\u654f\u57fa\u56e0\u5206\u6790\u4fe1\u606f\u7b49\u3002\u6b64\u5916\uff0cGene4Denovo\u8fd8\u5177\u6709\u7ebf\u4e0a\u57fa\u56e0\u6570\u636e\u6ce8\u91ca\u4e0e\u5206\u6790\u529f\u80fd\uff0c\u7528\u6237\u53ef\u901a\u8fc7\u4e0a\u4f20VCF\u683c\u5f0f\u7684\u53d8\u5f02\u6570\u636e\uff0c\u5b9e\u73b0\u5bf9\u6570\u636e\u7684\u7efc\u5408\u6ce8\u91ca\uff0c\u5e76\u7b5b\u9009\u76f8\u5e94\u7684\u5019\u9009\u57fa\u56e0\u3002Gene4Denovo\u6570\u636e\u5e93\u7684\u53d1\u8868\uff0c\u5bf9\u4e8e\u672a\u6765\u65b0\u53d1\u7a81\u53d8\u7684\u81f4\u75c5\u6027\u7814\u7a76\u53ca\u5176\u4e34\u5e8a\u610f\u4e49\u7684\u89e3\u91ca\u5177\u6709\u91cd\u8981\u7684\u652f\u6491\u4f5c\u7528\uff0c\u4e3a\u9057\u4f20\u5b66\u4e13\u5bb6\u3001\u795e\u7ecf\u79d1\u5b66\u4e13\u5bb6\uff0c\u4ee5\u53ca\u4e34\u5e8a\u533b\u751f\u63d0\u4f9b\u91cd\u8981\u7684\u8f85\u52a9\u5de5\u5177\u3002<\/p>\n\n\n\n<p>\u4e2d\u5357\u5927\u5b66\u6e58\u96c5\u533b\u9662\u56fd\u5bb6\u8001\u5e74\u75be\u75c5\u4e34\u5e8a\u533b\u5b66\u7814\u7a76\u4e2d\u5fc3\u52a9\u7406\u7814\u7a76\u5458\u8d75\u8d35\u864e\u535a\u58eb\u3001\u4e2d\u5357\u5927\u5b66\u751f\u547d\u79d1\u5b66\u5b66\u9662\u535a\u58eb\u7814\u7a76\u751f\u674e\u9614\u9614\u4e3a\u5171\u540c\u7b2c\u4e00\u4f5c\u8005\uff0c\u674e\u6d25\u81e3\u7814\u7a76\u5458\u4e3a\u901a\u8baf\u4f5c\u8005\uff0c\u4e2d\u5357\u5927\u5b66\u4e3a\u7b2c\u4e00\u5355\u4f4d\u517c\u7b2c\u4e00\u901a\u8baf\u5355\u4f4d\u3002\u4e2d\u5357\u5927\u5b66\u6e58\u96c5\u533b\u9662\u56fd\u5bb6\u8001\u5e74\u75be\u75c5\u4e34\u5e8a\u533b\u5b66\u7814\u7a76\u4e2d\u5fc3\u5510\u5317\u6c99\u6559\u6388\u548c\u4e2d\u5357\u5927\u5b66\u751f\u547d\u79d1\u5b66\u5b66\u9662\u590f\u6606\u7814\u7a76\u5458\u8bfe\u9898\u7ec4\u7684\u591a\u4e2a\u6210\u5458\u4e3b\u8981\u53c2\u4e0e\u4e86\u8be5\u9879\u7814\u7a76\u3002<\/p>\n\n\n\n<p>\u8bba\u6587\u94fe\u63a5\uff1a<a href=\"https:\/\/doi.org\/10.1093\/nar\/gkz923\">https:\/\/doi.org\/10.1093\/nar\/gkz923<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>2019\u5e7410\u670823\u65e5\uff0c\u82f1\u56fd\u725b\u6d25\u5927\u5b66\u51fa\u7248\u793e\u65d7\u4e0b\u7684\u6838 <a class=\"mh-excerpt-more\" href=\"http:\/\/www.hngenetics.org\/?p=1285\" title=\"\u4e2d\u5357\u5927\u5b66\u674e\u6d25\u81e3\u3001\u5510\u5317\u6c99\u3001\u590f\u6606\u5408\u4f5c\u56e2\u961fNucleic Acids Research\u53d1\u8868\u4eba\u7c7b\u65b0\u53d1\u7a81\u53d8\u6570\u636e\u5e93\u4e0e\u5206\u6790\u5e73\u53f0Gene4Denovo\">[\u8be6\u7ec6]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":1286,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4,9],"tags":[],"class_list":["post-1285","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rp","category-9"],"_links":{"self":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1285","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1285"}],"version-history":[{"count":1,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1285\/revisions"}],"predecessor-version":[{"id":1287,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1285\/revisions\/1287"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/media\/1286"}],"wp:attachment":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1285"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1285"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1285"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}