{"id":45418,"date":"2023-09-27T17:04:37","date_gmt":"2023-09-27T09:04:37","guid":{"rendered":"https:\/\/swarma.org\/?p=45418"},"modified":"2023-09-27T17:04:37","modified_gmt":"2023-09-27T09:04:37","slug":"science-%e9%80%9f%e9%80%92%ef%bc%9aalphamissense-%e4%b8%ba%e4%ba%ba%e7%b1%bb%e9%94%99%e4%b9%89%e5%8f%98%e5%bc%82%e8%87%b4%e7%97%85%e6%80%a7%e6%8f%90%e4%be%9b%e5%8f%af%e9%9d%a0%e9%a2%84%e6%b5%8b","status":"publish","type":"post","link":"https:\/\/swarma.org\/?p=45418","title":{"rendered":"Science \u901f\u9012\uff1aAlphaMissense \u4e3a\u4eba\u7c7b\u9519\u4e49\u53d8\u5f02\u81f4\u75c5\u6027\u63d0\u4f9b\u53ef\u9760\u9884\u6d4b"},"content":{"rendered":"
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\u8bba\u6587\u9898\u76ee\uff1a<\/span>Accurate proteome-wide missense variant effect prediction with AlphaMissense<\/span><\/section>\n
\u6591\u56fe\u5730\u5740\uff1ahttps:\/\/pattern.swarma.org\/paper\/f3b4b46a-58e0-11ee-88c4-0242ac17000d<\/span><\/section>\n
\u8bba\u6587\u5730\u5740\uff1ahttps:\/\/www.science.org\/doi\/full\/10.1126\/science.adg7492<\/span><\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/blockquote>\n

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\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u63ed\u793a\u4e86\u4eba\u7c7b\u7fa4\u4f53\u4e2d\u5e7f\u6cdb\u7684\u9057\u4f20\u53d8\u5f02\u3002\u9519\u4e49\u53d8\u5f02<\/span>\uff08missense variant\uff09<\/span>\u662f\u6539\u53d8\u86cb\u767d\u8d28\u6c28\u57fa\u9178\u5e8f\u5217\u7684\u9057\u4f20\u53d8\u5f02\u3002\u81f4\u75c5\u6027\u9519\u4e49\u53d8\u5f02\u7834\u574f\u86cb\u767d\u8d28\u529f\u80fd\uff0c\u964d\u4f4e\u673a\u4f53\u9002\u5e94\u6027\uff0c\u800c\u826f\u6027\u9519\u4e49\u53d8\u5f02\u4f5c\u7528\u6709\u9650\u3002<\/span><\/section>\n

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\u5bf9\u8fd9\u4e9b\u53d8\u5f02\u8fdb\u884c\u5206\u7c7b\u662f\u4eba\u7c7b\u9057\u4f20\u5b66\u4e2d\u4e00\u4e2a\u91cd\u8981\u7684\u6301\u7eed\u6311\u6218\u3002\u5728\u89c2\u5bdf\u5230\u7684400\u591a\u4e07\u4e2a\u9519\u4e49\u53d8\u5f02\u4e2d\uff0c\u4f30\u8ba1\u53ea\u67092%\u5728\u4e34\u5e8a\u4e0a\u88ab\u5f52\u7c7b\u4e3a\u81f4\u75c5\u6027\u6216\u826f\u6027\uff0c\u800c\u5176\u4e2d\u7edd\u5927\u591a\u6570\u5177\u6709\u672a\u77e5\u7684\u4e34\u5e8a\u610f\u4e49\u3002\u8fd9\u9650\u5236\u4e86\u7f55\u89c1\u75c5\u7684\u8bca\u65ad\uff0c\u4ee5\u53ca\u9488\u5bf9\u6f5c\u5728\u9057\u4f20\u539f\u56e0\u7684\u4e34\u5e8a\u6cbb\u7597\u7684\u53d1\u5c55\u6216\u5e94\u7528\u3002\u673a\u5668\u5b66\u4e60\u65b9\u6cd5\u53ef\u4ee5\u901a\u8fc7\u5229\u7528\u751f\u7269\u5b66\u6570\u636e\u4e2d\u7684\u6a21\u5f0f\u6765\u9884\u6d4b\u672a\u6ce8\u91ca\u7684\u53d8\u5f02\u7684\u81f4\u75c5\u6027\uff0c\u4ece\u800c\u7f29\u5c0f\u53d8\u5f02\u89e3\u91ca\u7684\u5dee\u8ddd\u3002\u5177\u4f53\u800c\u8a00\uff0cAlphaFold \u80fd\u591f\u4ece\u86cb\u767d\u8d28\u5e8f\u5217\u4e2d\u51c6\u786e\u9884\u6d4b\u86cb\u767d\u8d28\u7ed3\u6784\uff0c\u53ef\u4ee5\u4f5c\u4e3a\u9884\u6d4b\u86cb\u767d\u8d28\u53d8\u5f02\u81f4\u75c5\u6027\u7684\u57fa\u7840\u3002<\/span><\/section>\n

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\u7ed3\u679c<\/strong><\/span><\/section>\n

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\u8fd9\u9879\u6700\u65b0\u7814\u7a76\u5f00\u53d1\u4e86 AlphaMissense \uff0c\u5e76\u5229\u7528\u4e86\u591a\u4e2a\u65b9\u9762\u7684\u8fdb\u5c55\uff1a(i) \u65e0\u76d1\u7763\u86cb\u767d\u8d28\u8bed\u8a00\u6a21\u578b\uff0c\u4ee5\u5b66\u4e60\u5e8f\u5217\u4e0a\u4e0b\u6587\u6761\u4ef6\u4e0b\u7684\u6c28\u57fa\u9178\u5206\u5e03\uff1b(ii) \u4f7f\u7528\u6e90\u81ea AlphaFold \u7684\u7cfb\u7edf\u7eb3\u5165\u7ed3\u6784\u80cc\u666f\uff1b(iii) \u5bf9\u6765\u81ea\u79cd\u7fa4\u9891\u7387\u6570\u636e\u7684\u5f31\u6807\u7b7e\u8fdb\u884c\u5fae\u8c03\uff0c\u907f\u514d\u6765\u81ea\u4eba\u5de5\u7f16\u8f91\u6ce8\u91ca\u7684\u504f\u5dee\u3002<\/span><\/section>\n

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\u5728\u4e34\u5e8a\u6ce8\u91ca\u3001\u65b0\u751f\u75be\u75c5\u53d8\u5f02\u548c\u5b9e\u9a8c\u5206\u6790\u57fa\u51c6\u4e2d\uff0cAlphaMissense \u5b9e\u73b0\u4e86\u6700\u5148\u8fdb\u7684\u9519\u4e49\u81f4\u75c5\u6027\u9884\u6d4b\uff0c\u800c\u65e0\u9700\u7279\u522b\u5728\u8fd9\u4e9b\u6570\u636e\u4e0a\u8fdb\u884c\u8bad\u7ec3\u3002\u4f5c\u4e3a\u793e\u533a\u8d44\u6e90\uff0c\u8be5\u7814\u7a76\u4e3a\u4eba\u7c7b\u86cb\u767d\u8d28\u7ec4\u4e2d\u6240\u6709\u53ef\u80fd\u7684\u5355\u6c28\u57fa\u9178\u53d6\u4ee3\u63d0\u4f9b\u4e86\u4e00\u4e2a\u9884\u6d4b\u6570\u636e\u5e93\u3002\u7814\u7a76\u5728 ClinVar \u6570\u636e\u96c6\u4e0a\u4f7f\u7528\u7cbe\u786e\u5ea6 90% \u7684\u622a\u6b62\u503c\uff0c\u5c0632%\u7684\u9519\u4e49\u53d8\u5f02\u5206\u7c7b\u4e3a\u53ef\u80fd\u81f4\u75c5\u7684\uff0c57%\u7684\u9519\u4e49\u53d8\u5f02\u5206\u7c7b\u4e3a\u53ef\u80fd\u826f\u6027\u7684\uff0c\u4ece\u800c\u4e3a\u5927\u591a\u6570\u4eba\u7c7b\u9519\u4e49\u53d8\u5f02\u63d0\u4f9b\u4e86\u53ef\u9760\u7684\u9884\u6d4b<\/strong>\u3002<\/span><\/section>\n

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\u7814\u7a76\u5c55\u793a\u4e86\u5982\u4f55\u5229\u7528\u8fd9\u4e9b\u8d44\u6e90\u6765\u52a0\u901f\u591a\u4e2a\u9886\u57df\u7684\u7814\u7a76\u3002\u5206\u5b50\u751f\u7269\u5b66\u5bb6\u53ef\u4ee5\u4f7f\u7528\u8be5\u6570\u636e\u5e93\u4f5c\u4e3a\u8d77\u70b9\uff0c\u8bbe\u8ba1\u548c\u89e3\u91ca\u63a2\u6d4b\u4eba\u7c7b\u86cb\u767d\u8d28\u7ec4\u4e2d\u9971\u548c\u6c28\u57fa\u9178\u53d6\u4ee3\u7684\u5b9e\u9a8c\u3002\u9057\u4f20\u5b66\u5bb6\u53ef\u4ee5\u5c06\u57fa\u56e0\u6c34\u5e73\u7684 AlphaMissense \u9884\u6d4b\u4e0e\u57fa\u4e8e\u7fa4\u4f53\u961f\u5217\u7684\u65b9\u6cd5\u76f8\u7ed3\u5408\uff0c\u4ee5\u91cf\u5316\u57fa\u56e0\u7684\u529f\u80fd\u610f\u4e49\uff0c\u7279\u522b\u662f\u5bf9\u57fa\u4e8e\u961f\u5217\u7684\u65b9\u6cd5\u7f3a\u4e4f\u7edf\u8ba1\u80fd\u529b\u7684\u8f83\u77ed\u7684\u4eba\u7c7b\u57fa\u56e0\u3002\u4e34\u5e8a\u533b\u751f\u5728\u4e3a\u7f55\u89c1\u75be\u75c5\u8bca\u65ad\u4f18\u5148\u8003\u8651\u65b0\u751f\u53d8\u5f02\u65f6\uff0c\u53ef\u4ee5\u4ece\u53ef\u9760\u5206\u7c7b\u7684\u81f4\u75c5\u53d8\u5f02\u7684\u8986\u76d6\u8303\u56f4\u589e\u52a0\u4e2d\u53d7\u76ca\uff0c\u5e76\u4e14 AlphaMissense \u9884\u6d4b\u53ef\u4ee5\u4e3a\u4f7f\u7528\u7f55\u89c1\u7684\u3001\u53ef\u80fd\u6709\u5bb3\u7684\u53d8\u5f02\u6ce8\u91ca\u7684\u590d\u6742\u6027\u72b6\u9057\u4f20\u5b66\u7814\u7a76\u63d0\u4f9b\u4fe1\u606f\u3002<\/span><\/section>\n

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\u7ed3\u8bba<\/strong><\/span><\/section>\n

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AlphaMissense \u9884\u6d4b\u53ef\u80fd\u9610\u660e\u53d8\u5f02\u5bf9\u86cb\u767d\u8d28\u529f\u80fd\u7684\u5206\u5b50\u6548\u5e94\uff0c\u6709\u52a9\u4e8e\u9274\u5b9a\u81f4\u75c5\u6027\u9519\u4e49\u7a81\u53d8\u548c\u4ee5\u524d\u672a\u77e5\u7684\u81f4\u75c5\u57fa\u56e0\uff0c\u5e76\u63d0\u9ad8\u7f55\u89c1\u9057\u4f20\u75be\u75c5\u7684\u8bca\u65ad\u7387\u3002AlphaMissense \u8fd8\u5c06\u4fc3\u8fdb\u4ece\u7ed3\u6784\u9884\u6d4b\u6a21\u578b\u4e2d\u8fdb\u4e00\u6b65\u5f00\u53d1\u4e13\u95e8\u7684\u86cb\u767d\u8d28\u53d8\u5f02\u6548\u5e94\u9884\u6d4b\u56e0\u5b50\u3002<\/span><\/section>\n

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\u56fe1. AlphaMissense \u81f4\u75c5\u6027\u9884\u6d4b\u3002AlphaMissense\u5c06\u9519\u4e49\u53d8\u5f02\u4f5c\u4e3a\u8f93\u5165\u5e76\u9884\u6d4b\u5176\u81f4\u75c5\u6027\u3002\u7814\u7a76\u6839\u636e\u4eba\u7c7b\u548c\u7075\u957f\u7c7b\u52a8\u7269\u53d8\u5f02\u79cd\u7fa4\u9891\u7387\u6570\u636e\u5bf9 AlphaFold \u8fdb\u884c\u4e86\u5fae\u8c03\uff0c\u5e76\u6821\u51c6\u4e86\u5df2\u77e5\u75be\u75c5\u53d8\u5f02\u7684\u7f6e\u4fe1\u5ea6\u3002AlphaMissense \u9884\u6d4b\u9519\u4e49\u53d8\u5f02\u81f4\u75c5\u6027\u7684\u53ef\u80fd\u6027\uff0c\u5e76\u5c06\u5176\u5206\u7c7b\u4e3a\u53ef\u80fd\u826f\u6027\u3001\u53ef\u80fd\u81f4\u75c5\u6027\u6216\u4e0d\u786e\u5b9a\u3002\u7814\u7a76\u4e3a\u6240\u6709\u53ef\u80fd\u7684\u4eba\u7c7b\u9519\u4e49\u53d8\u5f02\u63d0\u4f9b\u9884\u6d4b\uff0c\u4f5c\u4e3a\u793e\u533a\u8d44\u6e90\u3002<\/span><\/p>\n


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\u56fe2. AlphaMissense \u6846\u67b6\u6982\u89c8<\/span><\/section>\n

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\u7f16\u8bd1\uff5c\u6881\u91d1<\/span><\/section>\n
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\u5927\u6a21\u578b\u4e0e\u751f\u7269\u533b\u5b66\uff1a<\/strong><\/p>\n

AI + Science\u7b2c\u4e8c\u5b63\u8bfb\u4e66\u4f1a\u542f\u52a8<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n


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\u8be6\u60c5\u8bf7\u89c1\uff1a<\/span><\/span><\/p>\n

\u5927\u6a21\u578b\u4e0e\u751f\u7269\u533b\u5b66\uff1aAI + Science\u7b2c\u4e8c\u5b63\u8bfb\u4e66\u4f1a\u542f\u52a8<\/a><\/span>
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\u63a8\u8350\u9605\u8bfb<\/span><\/strong><\/strong><\/p>\n

\u200d<\/span>1.<\/strong> <\/strong>PNAS \u901f\u9012\uff1a\u86cb\u767d\u8d28\u7ed3\u6784\u9884\u6d4b\u4e2d transformer \u7684\u53d8\u6362\u80fd\u529b<\/a><\/strong><\/span><\/strong><\/strong><\/section>\n
2.<\/strong> Nat. Commun. \u901f\u9012\uff1a\u65e0\u53c2\u6570\u51e0\u4f55\u6df1\u5ea6\u5b66\u4e60\u7cbe\u51c6\u9884\u6d4b\u86cb\u767d\u8d28\u7ed3\u5408\u754c\u9762<\/a><\/strong><\/span><\/strong><\/section>\n
3. <\/strong><\/strong>\u5df4\u62c9\u5df4\u897f\u65b0\u4f5c\uff1aAI-Bind \u52a9\u529b\u86cb\u767d\u8d28-\u914d\u4f53\u7ed3\u5408\u9884\u6d4b<\/a><\/strong><\/strong><\/span><\/strong><\/strong><\/section>\n
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4. <\/strong><\/strong><\/span>\u5f20\u6c5f\uff1a\u7b2c\u4e09\u4ee3\u4eba\u5de5\u667a\u80fd\u6280\u672f\u57fa\u7840\u2014\u2014\u4ece\u53ef\u5fae\u5206\u7f16\u7a0b\u5230\u56e0\u679c\u63a8\u7406 | \u96c6\u667a\u5b66\u56ed\u5168\u65b0\u8bfe\u7a0b<\/a><\/strong><\/strong><\/span><\/section>\n
5. <\/strong><\/strong>\u6210\u4e3a\u96c6\u667aVIP\uff0c\u89e3\u9501\u5168\u7ad9\u8bfe\u7a0b\uff0f\u8bfb\u4e66\u4f1a<\/a><\/span><\/strong><\/strong><\/strong><\/section>\n
6. <\/strong>\u52a0\u5165\u96c6\u667a\uff0c\u4e00\u8d77\u590d\u6742\uff01<\/strong><\/span><\/a><\/section>\n

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\u70b9\u51fb\u201c\u9605\u8bfb\u539f\u6587\u201d\uff0c\u62a5\u540d\u8bfb\u4e66\u4f1a<\/strong><\/strong><\/span><\/strong><\/section>\n

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\u5173\u952e\u8bcd\uff1a\u86cb\u767d\u8d28\u7ed3\u6784\u9884\u6d4b\uff0c\u9519\u4e49\u53d8\u5f02\u5206\u7c7b\uff0c\u86cb\u767d\u8d28\u8bed\u8a00\u6a21\u578b\uff0c\u673a\u5668\u5b66\u4e60 \u8bba\u6587\u9898\u76ee\uff1aAccurate proteome-wide missense variant effect prediction with AlphaMissense \u6591\u56fe\u5730\u5740\uff1ahttps:\/\/pattern.swarma.org\/pape…<\/p>\n","protected":false},"author":0,"featured_media":45414,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"special":[],"_links":{"self":[{"href":"https:\/\/swarma.org\/index.php?rest_route=\/wp\/v2\/posts\/45418"}],"collection":[{"href":"https:\/\/swarma.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/swarma.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/swarma.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=45418"}],"version-history":[{"count":0,"href":"https:\/\/swarma.org\/index.php?rest_route=\/wp\/v2\/posts\/45418\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/swarma.org\/index.php?rest_route=\/wp\/v2\/media\/45414"}],"wp:attachment":[{"href":"https:\/\/swarma.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=45418"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/swarma.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=45418"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/swarma.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=45418"},{"taxonomy":"special","embeddable":true,"href":"https:\/\/swarma.org\/index.php?rest_route=%2Fwp%2Fv2%2Fspecial&post=45418"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}