{"id":244649,"date":"2024-06-25T18:51:00","date_gmt":"2024-06-25T10:51:00","guid":{"rendered":"https:\/\/pingtungtimes.com.tw\/?p=244649"},"modified":"2024-06-25T18:51:00","modified_gmt":"2024-06-25T10:51:00","slug":"illumina-%e7%89%b9%e8%81%98%e7%a7%91%e5%ad%b8%e5%ae%b6%e5%8f%b0%e5%8d%97%e6%bc%94%e8%ac%9b%ef%bc%8c%e6%9a%a2%e8%ab%87-ai-%e7%b2%be%e6%ba%96%e9%86%ab%e5%ad%b8%e6%96%b0%e7%aa%81%e7%a0%b4","status":"publish","type":"post","link":"https:\/\/pingtungtimes.com.tw\/?p=244649","title":{"rendered":"Illumina \u7279\u8058\u79d1\u5b78\u5bb6\u53f0\u5357\u6f14\u8b1b\uff0c\u66a2\u8ac7 AI \u7cbe\u6e96\u91ab\u5b78\u65b0\u7a81\u7834"},"content":{"rendered":"
\n\n\n\n
\"\"<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u53f0\u5317<\/span>2024\u5e746\u670825\u65e5<\/span> \/\u7f8e\u901a\u793e\/ — \u7e7c\u4eca\u5e74 6 \u6708\u4efd\u65bc\u53f0\u5317\u8209\u8fa6\u7684COMPUTEX 2024\u5f15\u8d77AI\u6d6a\u6f6e\u5f8c\uff0c\u5168\u7403\u57fa\u56e0\u5b9a\u5e8f\u5100\u5668\u9f8d\u982d\u4f01\u696d
Illumina \u7684\u526f\u7e3d\u88c1\u53ca\u7279\u8058\u79d1\u5b78\u5bb6\u6a0a\u93a7\u8c6a\u535a\u58eb\u5230\u53f0\u5357\u767c\u8868\u5c08\u984c\u6f14\u8b1b\uff0c\u66a2\u8ac7\u5982\u4f55\u501f\u52a9 AI \u63a2\u7d22\u4eba\u985e\u57fa\u56e0\u8b8a\u7570\uff0c\u5f9e\u800c\u52a0\u901f\u65b0\u85e5\u958b\u767c\u3002<\/span><\/p>\n<\/p><\/div>\n

\u4ee5 AI \u8fa8\u8b58\u4eba\u985e\u81f4\u75c5\u8b8a\u7570\uff0c\u63d0\u5347\u85e5\u7269\u767c\u73fe\u53ca\u81e8\u5e8a\u8a66\u9a57\u6210\u529f\u6a5f\u7387<\/b><\/p>\n

\u9664\u4e86\u6e96\u78ba\u5206\u8fa8\u4eba\u985e\u57fa\u56e0\u9ad4\u7684\u8b8a\u7570\uff0c\u6a0a\u535a\u58eb\u8868\u793a PrimateAl-3D \u6f14\u7b97\u6cd5\u4e5f\u6709\u52a9\u65bc\u7a81\u7834\u6a19\u9776\u85e5\u7269\u958b\u767c\u7684\u95dc\u9375\u74f6\u9838\uff0c\u5f9e\u800c\u5927\u5e45\u63d0\u9ad8\u85e5\u7269\u958b\u767c\u548c\u81e8\u5e8a\u8a66\u9a57\u7684\u6210\u529f\u7387\u3002\u4ee5 LDLR<\/i> \u548c CDSK9<\/i> \u9019\u5169\u500b\u57fa\u56e0\u70ba\u4f8b\uff0c\u5b83\u5011\u6240\u7de8\u78bc\u7684\u86cb\u767d\u662f\u8207\u9ad8\u81bd\u56fa\u9187\u8840\u75c7\u548c\u5fc3\u8840\u7ba1\u75be\u75c5\u5bc6\u5207\u76f8\u95dc\u7684\u751f\u7269\u6a19\u8a18\u7269\uff0c\u900f\u904e\u5229\u7528\u6b64 AI \u6f14\u7b97\u6cd5\u63a8\u4f30\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u8a55\u5206\uff08PrimateAI-3D score\uff09\uff0c\u7814\u7a76\u4eba\u54e1\u767c\u73fe\u4eba\u9ad4\u5167\u4f4e\u5bc6\u5ea6\u81bd\u56fa\u9187\uff08Low-density lipoprotein cholesterol\uff0cLDL\uff0c\u5373\u6c11\u773e\u4fd7\u7a31\u7684\u300c\u58de\u81bd\u56fa\u9187\u300d\uff09\u7684\u6c34\u5e73\u8207 LDLR<\/i> \u548c PCSK9<\/i> \u7684\u8b8a\u7570\u76f8\u95dc\u3002\u4f8b\u5982\u7576\u524d\u8005\u7684\u8b8a\u7570\u5f97\u51fa\u7684 PrimateAI-3D \u5206\u6578\u8f03\u9ad8\uff0c\u500b\u9ad4\u8840\u6db2\u4e2d\u7684 LDL \u81bd\u56fa\u9187\u6c34\u5e73\u6703\u6bd4\u4f4e\u5206\u8005\u70ba\u9ad8\u3002\u81f3\u65bc\u5f8c\u8005\uff0c\u6f14\u7b97\u6cd5\u7d50\u679c\u986f\u793a\u5e36\u6709\u7f55\u898b\u4e14 PrimateAI-3D \u5206\u6578\u8f03\u9ad8\u7684\u8b8a\u7570\u7684\u500b\u9ad4\uff0c\u5176 LDL \u81bd\u56fa\u9187\u6c34\u5e73\u6703\u76f8\u5c0d\u8f03\u4f4e\u3002<\/p>\n

\u9019\u4e9b\u767c\u73fe\u5c07\u6709\u52a9\u79d1\u5b78\u5bb6\u66f4\u6709\u6548\u627e\u51fa\u85e5\u7269\u6a19\u9776\uff0c\u7e7c\u800c\u958b\u767c\u6a21\u4eff\u81ea\u7136\u907a\u50b3\u8b8a\u7570\u7684\u85e5\u7269\u3002\u4e8b\u5be6\u4e0a\uff0c\u501f\u52a9 AI \u642d\u914d\u907a\u50b3\u5b78\u5206\u6790\uff0c\u5718\u968a\u5df2\u7d93\u627e\u51fa\u9020\u6210 LDL \u7570\u5e38\u7d2f\u7a4d\u7684\u8def\u5f91\uff0c\u8b93\u85e5\u5ee0\u80fd\u5920\u91dd\u5c0d\u7576\u4e2d\u7684\u95dc\u9375\u8b8a\u7570\u53ca\u751f\u7269\u6a19\u8a18\u7269\u7814\u767c\u6a19\u9776\u7642\u6cd5\uff0c\u4f30\u8a08\u76f8\u95dc\u85e5\u7269\uff08\u4f8b\u5982 PCSK9\u3001ANGPTL3\/4 \u6216 NPC1L1 \u7684\u6291\u5236\u5291\uff09\u7684\u5e02\u5834\u898f\u6a21\u9054\u6578\u5341\u5104\u7f8e\u5143\u8a08\u3002\u6b64\u5916\uff0c\u5718\u968a\u53e6\u4e00\u500b\u65bc 2023 \u5e74\u5728\u300a\u79d1\u5b78\u300b\u4e2d\u767c\u8868\u7684\u7814\u7a76\u986f\u793a\uff0c\u540c\u6a23\u91dd\u5c0d\u82f1\u570b\u751f\u7269\u6a23\u672c\u5eab\uff08UK Biobank\uff09\u4e2d\u903e 45 \u842c\u500b\u500b\u9ad4\uff0cPrimateAI-3D \u5728\u767c\u73fe\u65b0\u7684\u85e5\u7269\u6a19\u9776\u65b9\u9762\u7684\u8868\u73fe\u986f\u8457\u512a\u65bc\u7f8e\u570b\u67d0\u85e5\u5ee0\u65bc 2021 \u5e74\u9032\u884c\u7684\u7814\u7a76\u3002\u5c55\u671b\u672a\u4f86\uff0c\u5718\u968a\u5c07\u6703\u8207\u4e0d\u540c\u7684\u5927\u85e5\u5ee0\u4ee5\u53ca\u570b\u5bb6\u7d1a\u57fa\u56e0\u5b9a\u5e8f\u8a08\u756b\u5408\u4f5c\uff0c\u671f\u671b\u5c07\u6f14\u7b97\u6cd5\u7684\u61c9\u7528\u7bc4\u570d\u5f9e\u9ad8\u81bd\u56fa\u9187\u9019\u985e\u6bd4\u8f03\u666e\u904d\u7684\u5065\u5eb7\u554f\u984c\u62d3\u5c55\u81f3\u7f55\u898b\u591a\u767c\u6027\u786c\u5316\u75c7\u3001\u5e15\u91d1\u68ee\u6c0f\u75c7\u7b49\u76f8\u8f03\u7f55\u898b\u7684\u75be\u75c5\u3002<\/p>\n

\u53e6\u4e00\u65b9\u9762\uff0c\u6a0a\u535a\u58eb\u5728\u6f14\u8b1b\u4e2d\u4e5f\u63d0\u5230\u300c\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08Polygenic Risk Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002<\/p>\n

AI \u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u52a0\u901f\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8<\/b><\/p>\n

\u96a8\u8457\u6a5f\u5668\u5b78\u7fd2\u3001\u4eba\u5de5\u667a\u6167\u548c\u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u6a0a\u535a\u58eb\u53ca\u5176\u5718\u968a\u9084\u9032\u4e00\u6b65\u958b\u767c\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u8def\u70ba\u57fa\u790e\u7684 SpliceAI\uff0c\u53ef\u5229\u7528 RNA \u5b9a\u5e8f\uff08RNA-seq\uff09\uff0c\u91dd\u5c0d\u500b\u5225\u7d44\u7e54\u6216\u75be\u75c5\uff0c\u9810\u6e2c\u76f8\u95dc\u7684\u9078\u64c7\u6027\u526a\u63a5\uff08Alternative splicing\uff09\u6a21\u5f0f\u3001\u4ee5\u53ca\u6703\u64fe\u4e82\u57fa\u56e0\u526a\u63a5\u7684\u975e\u7de8\u78bc\u8b8a\u7570\uff08Non-coding variants\uff09\uff0c\u4e26\u8b58\u5225\u75c5\u4eba\u7d30\u80de\u4e2d\u7570\u5e38\u7684\u526a\u63a5\u554f\u984c\u3002\u73fe\u6642 SpliceAI \u7684\u6e96\u78ba\u5ea6\u53ef\u9054 95%\uff0c\u9060\u8d85\u904e\u73fe\u6709\u529f\u80fd\u985e\u4f3c\u7684 AI \u6f14\u7b97\u6cd5\u3002\u4ee5\u81ea\u9589\u75c7\u70ba\u4f8b\uff0c\u784f\u7a76\u5718\u968a\u5728 28 \u540d\u672a\u78ba\u8a3a\u7684\u81ea\u9589\u75c7\u60a3\u8005\u4e2d\uff0c\u9810\u6e2c\u4e86 75\uff05 \u60a3\u8005\u4e2d\u57fa\u56e0\u9ad4\u767c\u751f\u7570\u5e38\u526a\u63a5\u7684\u4f4d\u9ede\u3002<\/p>\n

\u53e6\u4e00\u65b9\u9762\uff0c\u5718\u968a\u4e5f\u6301\u7e8c\u958b\u767c\u65b0\u7684\u61c9\u7528\uff0c\u5305\u62ec\u4e00\u6b3e\u540d\u70ba perturb-seq \u7684\u57fa\u56e0\u7de8\u8f2f\u6280\u8853\u3002\u5176\u539f\u7406\u662f\u5c07\u6bcf\u9846\u7d30\u80de\u8996\u70ba\u4e00\u500b\u5be6\u9a57\uff0c\u7814\u7a76\u4eba\u54e1\u5c07\u4e0d\u540c\u57fa\u56e0\u8b8a\u7570\u63d2\u5165\u55ae\u500b\u7d30\u80de\uff0c\u8b93\u6bcf\u9846\u7d30\u80de\u90fd\u5e36\u6709\u4e00\u500b\u8b8a\u7570\uff0c\u63a5\u4e0b\u4f86\u518d\u4ee5\u55ae\u7d30\u80de RNA \u5b9a\u5e8f\u5206\u6790\u9019\u4e9b\u8b8a\u7570\u5982\u4f55\u5f71\u97ff\u7d30\u80de\u529f\u80fd\uff0c\u4e26\u904b\u7528\u6a5f\u5668\u5b78\u7fd2\u6f14\u7b97\u6cd5\u8a55\u4f30\u6bcf\u500b\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u3002\u76ee\u524d\u5718\u968a\u5df2\u501f\u52a9\u6b64\u6280\u8853\u6210\u529f\u7834\u89e3\u6d89\u53ca\u00a0TP53<\/i>\u3001CDKN2A<\/i> \u548c SOD1 <\/i>\u57fa\u56e0\u5408\u5171\u903e 5,000 \u500b\u8b8a\u7570\uff0c\u7576\u4e2d\u524d\u5169\u8005\u662f\u5e38\u898b\u7684\u816b\u7624\u6291\u5236\u57fa\u56e0\u3002\u6a0a\u535a\u58eb\u8a8d\u70ba\uff0c\u9019\u9805\u6280\u8853\u672a\u4f86\u53ef\u52a0\u901f\u7f55\u898b\u75be\u75c5\u7684\u8a3a\u65b7\u3002\u6700\u5f8c\u4ed6\u4e5f\u8868\u793a\uff0c\u96a8\u8457\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8\uff0c\u5982\u4f55\u63a8\u52d5\u7fa4\u9ad4\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff0c\u6700\u7d42\u9084\u662f\u6709\u8cf4\u4eba\u5de5\u667a\u6167\u7684\u6280\u8853\u5354\u52a9\u3002\u800c Illumina \u4ea6\u81f4\u529b\u5728\u76f8\u95dc\u9818\u57df\u63d0\u4f9b\u9818\u5148\u696d\u754c\u7684\u670d\u52d9\u548c\u89e3\u6c7a\u65b9\u6848\uff0c\u5354\u52a9\u5404\u5927\u85e5\u5ee0\u52a0\u901f\u85e5\u7269\u958b\u767c\u3002<\/p>\n

\n

\"\u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002\"<\/a>
\u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002<\/span><\/p>\n<\/p><\/div>\n

\u53c3\u8003\u8cc7\u6599\uff1a<\/p>\n

    \n
  1. https:\/\/www.linkedin.com\/in\/kyle-kai-how-farh-md-phd-8002bba7\/<\/a><\/u><\/li>\n
  2. https:\/\/sapac.illumina.com\/science\/genomics-research\/articles\/primateai-3d.html<\/a><\/u><\/li>\n
  3. https:\/\/www.primad.basespace.illumina.com<\/a><\/u><\/li>\n
  4. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/<\/a><\/u><\/li>\n
  5. https:\/\/www.science.org\/doi\/10.1126\/science.abn8197<\/a><\/u><\/li>\n
  6. https:\/\/www.chop.edu\/conditions-diseases\/cacna1a-related-disorders<\/a><\/u><\/li>\n
  7. https:\/\/www.genome.gov\/Health\/Genomics-and-Medicine\/Polygenic-risk-scores<\/a><\/u><\/li>\n
  8. https:\/\/www.science.org\/doi\/10.1126\/science.abo1131<\/a><\/u><\/li>\n
  9. https:\/\/www.nature.com\/articles\/s41586-021-04103-z<\/a><\/u><\/li>\n<\/ol>\n
    \n<\/p><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

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\u81bd\u56fa\u9187\u6c34\u5e73\u6703\u6bd4\u4f4e\u5206\u8005\u70ba\u9ad8\u3002\u81f3\u65bc\u5f8c\u8005\uff0c\u6f14\u7b97\u6cd5\u7d50\u679c\u986f\u793a\u5e36\u6709\u7f55\u898b\u4e14 PrimateAI-3D \u5206\u6578\u8f03\u9ad8\u7684\u8b8a\u7570\u7684\u500b\u9ad4\uff0c\u5176 LDL \u81bd\u56fa\u9187\u6c34\u5e73\u6703\u76f8\u5c0d\u8f03\u4f4e\u3002 \u9019\u4e9b\u767c\u73fe\u5c07\u6709\u52a9\u79d1\u5b78\u5bb6\u66f4\u6709\u6548\u627e\u51fa\u85e5\u7269\u6a19\u9776\uff0c\u7e7c\u800c\u958b\u767c\u6a21\u4eff\u81ea\u7136\u907a\u50b3\u8b8a\u7570\u7684\u85e5\u7269\u3002\u4e8b\u5be6\u4e0a\uff0c\u501f\u52a9 AI \u642d\u914d\u907a\u50b3\u5b78\u5206\u6790\uff0c\u5718\u968a\u5df2\u7d93\u627e\u51fa\u9020\u6210 LDL \u7570\u5e38\u7d2f\u7a4d\u7684\u8def\u5f91\uff0c\u8b93\u85e5\u5ee0\u80fd\u5920\u91dd\u5c0d\u7576\u4e2d\u7684\u95dc\u9375\u8b8a\u7570\u53ca\u751f\u7269\u6a19\u8a18\u7269\u7814\u767c\u6a19\u9776\u7642\u6cd5\uff0c\u4f30\u8a08\u76f8\u95dc\u85e5\u7269\uff08\u4f8b\u5982 PCSK9\u3001ANGPTL3\/4 \u6216 NPC1L1 \u7684\u6291\u5236\u5291\uff09\u7684\u5e02\u5834\u898f\u6a21\u9054\u6578\u5341\u5104\u7f8e\u5143\u8a08\u3002\u6b64\u5916\uff0c\u5718\u968a\u53e6\u4e00\u500b\u65bc 2023 \u5e74\u5728\u300a\u79d1\u5b78\u300b\u4e2d\u767c\u8868\u7684\u7814\u7a76\u986f\u793a\uff0c\u540c\u6a23\u91dd\u5c0d\u82f1\u570b\u751f\u7269\u6a23\u672c\u5eab\uff08UK Biobank\uff09\u4e2d\u903e 45 \u842c\u500b\u500b\u9ad4\uff0cPrimateAI-3D \u5728\u767c\u73fe\u65b0\u7684\u85e5\u7269\u6a19\u9776\u65b9\u9762\u7684\u8868\u73fe\u986f\u8457\u512a\u65bc\u7f8e\u570b\u67d0\u85e5\u5ee0\u65bc 2021 \u5e74\u9032\u884c\u7684\u7814\u7a76\u3002\u5c55\u671b\u672a\u4f86\uff0c\u5718\u968a\u5c07\u6703\u8207\u4e0d\u540c\u7684\u5927\u85e5\u5ee0\u4ee5\u53ca\u570b\u5bb6\u7d1a\u57fa\u56e0\u5b9a\u5e8f\u8a08\u756b\u5408\u4f5c\uff0c\u671f\u671b\u5c07\u6f14\u7b97\u6cd5\u7684\u61c9\u7528\u7bc4\u570d\u5f9e\u9ad8\u81bd\u56fa\u9187\u9019\u985e\u6bd4\u8f03\u666e\u904d\u7684\u5065\u5eb7\u554f\u984c\u62d3\u5c55\u81f3\u7f55\u898b\u591a\u767c\u6027\u786c\u5316\u75c7\u3001\u5e15\u91d1\u68ee\u6c0f\u75c7\u7b49\u76f8\u8f03\u7f55\u898b\u7684\u75be\u75c5\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u6a0a\u535a\u58eb\u5728\u6f14\u8b1b\u4e2d\u4e5f\u63d0\u5230\u300c\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08Polygenic Risk Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002 AI \u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u52a0\u901f\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8 \u96a8\u8457\u6a5f\u5668\u5b78\u7fd2\u3001\u4eba\u5de5\u667a\u6167\u548c\u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u6a0a\u535a\u58eb\u53ca\u5176\u5718\u968a\u9084\u9032\u4e00\u6b65\u958b\u767c\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u8def\u70ba\u57fa\u790e\u7684 SpliceAI\uff0c\u53ef\u5229\u7528 RNA \u5b9a\u5e8f\uff08RNA-seq\uff09\uff0c\u91dd\u5c0d\u500b\u5225\u7d44\u7e54\u6216\u75be\u75c5\uff0c\u9810\u6e2c\u76f8\u95dc\u7684\u9078\u64c7\u6027\u526a\u63a5\uff08Alternative splicing\uff09\u6a21\u5f0f\u3001\u4ee5\u53ca\u6703\u64fe\u4e82\u57fa\u56e0\u526a\u63a5\u7684\u975e\u7de8\u78bc\u8b8a\u7570\uff08Non-coding variants\uff09\uff0c\u4e26\u8b58\u5225\u75c5\u4eba\u7d30\u80de\u4e2d\u7570\u5e38\u7684\u526a\u63a5\u554f\u984c\u3002\u73fe\u6642 SpliceAI \u7684\u6e96\u78ba\u5ea6\u53ef\u9054 95%\uff0c\u9060\u8d85\u904e\u73fe\u6709\u529f\u80fd\u985e\u4f3c\u7684 AI \u6f14\u7b97\u6cd5\u3002\u4ee5\u81ea\u9589\u75c7\u70ba\u4f8b\uff0c\u784f\u7a76\u5718\u968a\u5728 28 \u540d\u672a\u78ba\u8a3a\u7684\u81ea\u9589\u75c7\u60a3\u8005\u4e2d\uff0c\u9810\u6e2c\u4e86 75\uff05 \u60a3\u8005\u4e2d\u57fa\u56e0\u9ad4\u767c\u751f\u7570\u5e38\u526a\u63a5\u7684\u4f4d\u9ede\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u5718\u968a\u4e5f\u6301\u7e8c\u958b\u767c\u65b0\u7684\u61c9\u7528\uff0c\u5305\u62ec\u4e00\u6b3e\u540d\u70ba perturb-seq \u7684\u57fa\u56e0\u7de8\u8f2f\u6280\u8853\u3002\u5176\u539f\u7406\u662f\u5c07\u6bcf\u9846\u7d30\u80de\u8996\u70ba\u4e00\u500b\u5be6\u9a57\uff0c\u7814\u7a76\u4eba\u54e1\u5c07\u4e0d\u540c\u57fa\u56e0\u8b8a\u7570\u63d2\u5165\u55ae\u500b\u7d30\u80de\uff0c\u8b93\u6bcf\u9846\u7d30\u80de\u90fd\u5e36\u6709\u4e00\u500b\u8b8a\u7570\uff0c\u63a5\u4e0b\u4f86\u518d\u4ee5\u55ae\u7d30\u80de RNA 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\u4ea6\u81f4\u529b\u5728\u76f8\u95dc\u9818\u57df\u63d0\u4f9b\u9818\u5148\u696d\u754c\u7684\u670d\u52d9\u548c\u89e3\u6c7a\u65b9\u6848\uff0c\u5354\u52a9\u5404\u5927\u85e5\u5ee0\u52a0\u901f\u85e5\u7269\u958b\u767c\u3002 \u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002 \u53c3\u8003\u8cc7\u6599\uff1a https:\/\/www.linkedin.com\/in\/kyle-kai-how-farh-md-phd-8002bba7\/ https:\/\/sapac.illumina.com\/science\/genomics-research\/articles\/primateai-3d.html https:\/\/www.primad.basespace.illumina.com https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ https:\/\/www.science.org\/doi\/10.1126\/science.abn8197 https:\/\/www.chop.edu\/conditions-diseases\/cacna1a-related-disorders https:\/\/www.genome.gov\/Health\/Genomics-and-Medicine\/Polygenic-risk-scores https:\/\/www.science.org\/doi\/10.1126\/science.abo1131 https:\/\/www.nature.com\/articles\/s41586-021-04103-z\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/pingtungtimes.com.tw\/?p=244649\" \/>\n<meta property=\"og:locale\" content=\"zh_TW\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Illumina \u7279\u8058\u79d1\u5b78\u5bb6\u53f0\u5357\u6f14\u8b1b\uff0c\u66a2\u8ac7 AI \u7cbe\u6e96\u91ab\u5b78\u65b0\u7a81\u7834 - \u5c4f\u6771\u6642\u5831\u96fb\u5b50\u5831\" \/>\n<meta property=\"og:description\" content=\"\u53f0\u53172024\u5e746\u670825\u65e5 \/\u7f8e\u901a\u793e\/ -- \u7e7c\u4eca\u5e74 6 \u6708\u4efd\u65bc\u53f0\u5317\u8209\u8fa6\u7684COMPUTEX 2024\u5f15\u8d77AI\u6d6a\u6f6e\u5f8c\uff0c\u5168\u7403\u57fa\u56e0\u5b9a\u5e8f\u5100\u5668\u9f8d\u982d\u4f01\u696d Illumina \u7684\u526f\u7e3d\u88c1\u53ca\u7279\u8058\u79d1\u5b78\u5bb6\u6a0a\u93a7\u8c6a\u535a\u58eb\u5230\u53f0\u5357\u767c\u8868\u5c08\u984c\u6f14\u8b1b\uff0c\u66a2\u8ac7\u5982\u4f55\u501f\u52a9 AI \u63a2\u7d22\u4eba\u985e\u57fa\u56e0\u8b8a\u7570\uff0c\u5f9e\u800c\u52a0\u901f\u65b0\u85e5\u958b\u767c\u3002 \u4ee5 AI \u8fa8\u8b58\u4eba\u985e\u81f4\u75c5\u8b8a\u7570\uff0c\u63d0\u5347\u85e5\u7269\u767c\u73fe\u53ca\u81e8\u5e8a\u8a66\u9a57\u6210\u529f\u6a5f\u7387 \u9664\u4e86\u6e96\u78ba\u5206\u8fa8\u4eba\u985e\u57fa\u56e0\u9ad4\u7684\u8b8a\u7570\uff0c\u6a0a\u535a\u58eb\u8868\u793a PrimateAl-3D \u6f14\u7b97\u6cd5\u4e5f\u6709\u52a9\u65bc\u7a81\u7834\u6a19\u9776\u85e5\u7269\u958b\u767c\u7684\u95dc\u9375\u74f6\u9838\uff0c\u5f9e\u800c\u5927\u5e45\u63d0\u9ad8\u85e5\u7269\u958b\u767c\u548c\u81e8\u5e8a\u8a66\u9a57\u7684\u6210\u529f\u7387\u3002\u4ee5 LDLR \u548c CDSK9 \u9019\u5169\u500b\u57fa\u56e0\u70ba\u4f8b\uff0c\u5b83\u5011\u6240\u7de8\u78bc\u7684\u86cb\u767d\u662f\u8207\u9ad8\u81bd\u56fa\u9187\u8840\u75c7\u548c\u5fc3\u8840\u7ba1\u75be\u75c5\u5bc6\u5207\u76f8\u95dc\u7684\u751f\u7269\u6a19\u8a18\u7269\uff0c\u900f\u904e\u5229\u7528\u6b64 AI \u6f14\u7b97\u6cd5\u63a8\u4f30\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u8a55\u5206\uff08PrimateAI-3D score\uff09\uff0c\u7814\u7a76\u4eba\u54e1\u767c\u73fe\u4eba\u9ad4\u5167\u4f4e\u5bc6\u5ea6\u81bd\u56fa\u9187\uff08Low-density lipoprotein cholesterol\uff0cLDL\uff0c\u5373\u6c11\u773e\u4fd7\u7a31\u7684\u300c\u58de\u81bd\u56fa\u9187\u300d\uff09\u7684\u6c34\u5e73\u8207 LDLR \u548c PCSK9 \u7684\u8b8a\u7570\u76f8\u95dc\u3002\u4f8b\u5982\u7576\u524d\u8005\u7684\u8b8a\u7570\u5f97\u51fa\u7684 PrimateAI-3D \u5206\u6578\u8f03\u9ad8\uff0c\u500b\u9ad4\u8840\u6db2\u4e2d\u7684 LDL \u81bd\u56fa\u9187\u6c34\u5e73\u6703\u6bd4\u4f4e\u5206\u8005\u70ba\u9ad8\u3002\u81f3\u65bc\u5f8c\u8005\uff0c\u6f14\u7b97\u6cd5\u7d50\u679c\u986f\u793a\u5e36\u6709\u7f55\u898b\u4e14 PrimateAI-3D \u5206\u6578\u8f03\u9ad8\u7684\u8b8a\u7570\u7684\u500b\u9ad4\uff0c\u5176 LDL \u81bd\u56fa\u9187\u6c34\u5e73\u6703\u76f8\u5c0d\u8f03\u4f4e\u3002 \u9019\u4e9b\u767c\u73fe\u5c07\u6709\u52a9\u79d1\u5b78\u5bb6\u66f4\u6709\u6548\u627e\u51fa\u85e5\u7269\u6a19\u9776\uff0c\u7e7c\u800c\u958b\u767c\u6a21\u4eff\u81ea\u7136\u907a\u50b3\u8b8a\u7570\u7684\u85e5\u7269\u3002\u4e8b\u5be6\u4e0a\uff0c\u501f\u52a9 AI \u642d\u914d\u907a\u50b3\u5b78\u5206\u6790\uff0c\u5718\u968a\u5df2\u7d93\u627e\u51fa\u9020\u6210 LDL \u7570\u5e38\u7d2f\u7a4d\u7684\u8def\u5f91\uff0c\u8b93\u85e5\u5ee0\u80fd\u5920\u91dd\u5c0d\u7576\u4e2d\u7684\u95dc\u9375\u8b8a\u7570\u53ca\u751f\u7269\u6a19\u8a18\u7269\u7814\u767c\u6a19\u9776\u7642\u6cd5\uff0c\u4f30\u8a08\u76f8\u95dc\u85e5\u7269\uff08\u4f8b\u5982 PCSK9\u3001ANGPTL3\/4 \u6216 NPC1L1 \u7684\u6291\u5236\u5291\uff09\u7684\u5e02\u5834\u898f\u6a21\u9054\u6578\u5341\u5104\u7f8e\u5143\u8a08\u3002\u6b64\u5916\uff0c\u5718\u968a\u53e6\u4e00\u500b\u65bc 2023 \u5e74\u5728\u300a\u79d1\u5b78\u300b\u4e2d\u767c\u8868\u7684\u7814\u7a76\u986f\u793a\uff0c\u540c\u6a23\u91dd\u5c0d\u82f1\u570b\u751f\u7269\u6a23\u672c\u5eab\uff08UK Biobank\uff09\u4e2d\u903e 45 \u842c\u500b\u500b\u9ad4\uff0cPrimateAI-3D \u5728\u767c\u73fe\u65b0\u7684\u85e5\u7269\u6a19\u9776\u65b9\u9762\u7684\u8868\u73fe\u986f\u8457\u512a\u65bc\u7f8e\u570b\u67d0\u85e5\u5ee0\u65bc 2021 \u5e74\u9032\u884c\u7684\u7814\u7a76\u3002\u5c55\u671b\u672a\u4f86\uff0c\u5718\u968a\u5c07\u6703\u8207\u4e0d\u540c\u7684\u5927\u85e5\u5ee0\u4ee5\u53ca\u570b\u5bb6\u7d1a\u57fa\u56e0\u5b9a\u5e8f\u8a08\u756b\u5408\u4f5c\uff0c\u671f\u671b\u5c07\u6f14\u7b97\u6cd5\u7684\u61c9\u7528\u7bc4\u570d\u5f9e\u9ad8\u81bd\u56fa\u9187\u9019\u985e\u6bd4\u8f03\u666e\u904d\u7684\u5065\u5eb7\u554f\u984c\u62d3\u5c55\u81f3\u7f55\u898b\u591a\u767c\u6027\u786c\u5316\u75c7\u3001\u5e15\u91d1\u68ee\u6c0f\u75c7\u7b49\u76f8\u8f03\u7f55\u898b\u7684\u75be\u75c5\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u6a0a\u535a\u58eb\u5728\u6f14\u8b1b\u4e2d\u4e5f\u63d0\u5230\u300c\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08Polygenic Risk Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002 AI \u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u52a0\u901f\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8 \u96a8\u8457\u6a5f\u5668\u5b78\u7fd2\u3001\u4eba\u5de5\u667a\u6167\u548c\u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u6a0a\u535a\u58eb\u53ca\u5176\u5718\u968a\u9084\u9032\u4e00\u6b65\u958b\u767c\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u8def\u70ba\u57fa\u790e\u7684 SpliceAI\uff0c\u53ef\u5229\u7528 RNA \u5b9a\u5e8f\uff08RNA-seq\uff09\uff0c\u91dd\u5c0d\u500b\u5225\u7d44\u7e54\u6216\u75be\u75c5\uff0c\u9810\u6e2c\u76f8\u95dc\u7684\u9078\u64c7\u6027\u526a\u63a5\uff08Alternative splicing\uff09\u6a21\u5f0f\u3001\u4ee5\u53ca\u6703\u64fe\u4e82\u57fa\u56e0\u526a\u63a5\u7684\u975e\u7de8\u78bc\u8b8a\u7570\uff08Non-coding variants\uff09\uff0c\u4e26\u8b58\u5225\u75c5\u4eba\u7d30\u80de\u4e2d\u7570\u5e38\u7684\u526a\u63a5\u554f\u984c\u3002\u73fe\u6642 SpliceAI \u7684\u6e96\u78ba\u5ea6\u53ef\u9054 95%\uff0c\u9060\u8d85\u904e\u73fe\u6709\u529f\u80fd\u985e\u4f3c\u7684 AI \u6f14\u7b97\u6cd5\u3002\u4ee5\u81ea\u9589\u75c7\u70ba\u4f8b\uff0c\u784f\u7a76\u5718\u968a\u5728 28 \u540d\u672a\u78ba\u8a3a\u7684\u81ea\u9589\u75c7\u60a3\u8005\u4e2d\uff0c\u9810\u6e2c\u4e86 75\uff05 \u60a3\u8005\u4e2d\u57fa\u56e0\u9ad4\u767c\u751f\u7570\u5e38\u526a\u63a5\u7684\u4f4d\u9ede\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u5718\u968a\u4e5f\u6301\u7e8c\u958b\u767c\u65b0\u7684\u61c9\u7528\uff0c\u5305\u62ec\u4e00\u6b3e\u540d\u70ba perturb-seq \u7684\u57fa\u56e0\u7de8\u8f2f\u6280\u8853\u3002\u5176\u539f\u7406\u662f\u5c07\u6bcf\u9846\u7d30\u80de\u8996\u70ba\u4e00\u500b\u5be6\u9a57\uff0c\u7814\u7a76\u4eba\u54e1\u5c07\u4e0d\u540c\u57fa\u56e0\u8b8a\u7570\u63d2\u5165\u55ae\u500b\u7d30\u80de\uff0c\u8b93\u6bcf\u9846\u7d30\u80de\u90fd\u5e36\u6709\u4e00\u500b\u8b8a\u7570\uff0c\u63a5\u4e0b\u4f86\u518d\u4ee5\u55ae\u7d30\u80de RNA \u5b9a\u5e8f\u5206\u6790\u9019\u4e9b\u8b8a\u7570\u5982\u4f55\u5f71\u97ff\u7d30\u80de\u529f\u80fd\uff0c\u4e26\u904b\u7528\u6a5f\u5668\u5b78\u7fd2\u6f14\u7b97\u6cd5\u8a55\u4f30\u6bcf\u500b\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u3002\u76ee\u524d\u5718\u968a\u5df2\u501f\u52a9\u6b64\u6280\u8853\u6210\u529f\u7834\u89e3\u6d89\u53ca\u00a0TP53\u3001CDKN2A \u548c SOD1 \u57fa\u56e0\u5408\u5171\u903e 5,000 \u500b\u8b8a\u7570\uff0c\u7576\u4e2d\u524d\u5169\u8005\u662f\u5e38\u898b\u7684\u816b\u7624\u6291\u5236\u57fa\u56e0\u3002\u6a0a\u535a\u58eb\u8a8d\u70ba\uff0c\u9019\u9805\u6280\u8853\u672a\u4f86\u53ef\u52a0\u901f\u7f55\u898b\u75be\u75c5\u7684\u8a3a\u65b7\u3002\u6700\u5f8c\u4ed6\u4e5f\u8868\u793a\uff0c\u96a8\u8457\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8\uff0c\u5982\u4f55\u63a8\u52d5\u7fa4\u9ad4\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff0c\u6700\u7d42\u9084\u662f\u6709\u8cf4\u4eba\u5de5\u667a\u6167\u7684\u6280\u8853\u5354\u52a9\u3002\u800c Illumina \u4ea6\u81f4\u529b\u5728\u76f8\u95dc\u9818\u57df\u63d0\u4f9b\u9818\u5148\u696d\u754c\u7684\u670d\u52d9\u548c\u89e3\u6c7a\u65b9\u6848\uff0c\u5354\u52a9\u5404\u5927\u85e5\u5ee0\u52a0\u901f\u85e5\u7269\u958b\u767c\u3002 \u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002 \u53c3\u8003\u8cc7\u6599\uff1a https:\/\/www.linkedin.com\/in\/kyle-kai-how-farh-md-phd-8002bba7\/ https:\/\/sapac.illumina.com\/science\/genomics-research\/articles\/primateai-3d.html https:\/\/www.primad.basespace.illumina.com https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ https:\/\/www.science.org\/doi\/10.1126\/science.abn8197 https:\/\/www.chop.edu\/conditions-diseases\/cacna1a-related-disorders https:\/\/www.genome.gov\/Health\/Genomics-and-Medicine\/Polygenic-risk-scores https:\/\/www.science.org\/doi\/10.1126\/science.abo1131 https:\/\/www.nature.com\/articles\/s41586-021-04103-z\" \/>\n<meta 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Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002 AI 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\u4ea6\u81f4\u529b\u5728\u76f8\u95dc\u9818\u57df\u63d0\u4f9b\u9818\u5148\u696d\u754c\u7684\u670d\u52d9\u548c\u89e3\u6c7a\u65b9\u6848\uff0c\u5354\u52a9\u5404\u5927\u85e5\u5ee0\u52a0\u901f\u85e5\u7269\u958b\u767c\u3002 \u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002 \u53c3\u8003\u8cc7\u6599\uff1a https:\/\/www.linkedin.com\/in\/kyle-kai-how-farh-md-phd-8002bba7\/ https:\/\/sapac.illumina.com\/science\/genomics-research\/articles\/primateai-3d.html https:\/\/www.primad.basespace.illumina.com https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ https:\/\/www.science.org\/doi\/10.1126\/science.abn8197 https:\/\/www.chop.edu\/conditions-diseases\/cacna1a-related-disorders https:\/\/www.genome.gov\/Health\/Genomics-and-Medicine\/Polygenic-risk-scores https:\/\/www.science.org\/doi\/10.1126\/science.abo1131 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\u9019\u4e9b\u767c\u73fe\u5c07\u6709\u52a9\u79d1\u5b78\u5bb6\u66f4\u6709\u6548\u627e\u51fa\u85e5\u7269\u6a19\u9776\uff0c\u7e7c\u800c\u958b\u767c\u6a21\u4eff\u81ea\u7136\u907a\u50b3\u8b8a\u7570\u7684\u85e5\u7269\u3002\u4e8b\u5be6\u4e0a\uff0c\u501f\u52a9 AI \u642d\u914d\u907a\u50b3\u5b78\u5206\u6790\uff0c\u5718\u968a\u5df2\u7d93\u627e\u51fa\u9020\u6210 LDL \u7570\u5e38\u7d2f\u7a4d\u7684\u8def\u5f91\uff0c\u8b93\u85e5\u5ee0\u80fd\u5920\u91dd\u5c0d\u7576\u4e2d\u7684\u95dc\u9375\u8b8a\u7570\u53ca\u751f\u7269\u6a19\u8a18\u7269\u7814\u767c\u6a19\u9776\u7642\u6cd5\uff0c\u4f30\u8a08\u76f8\u95dc\u85e5\u7269\uff08\u4f8b\u5982 PCSK9\u3001ANGPTL3\/4 \u6216 NPC1L1 \u7684\u6291\u5236\u5291\uff09\u7684\u5e02\u5834\u898f\u6a21\u9054\u6578\u5341\u5104\u7f8e\u5143\u8a08\u3002\u6b64\u5916\uff0c\u5718\u968a\u53e6\u4e00\u500b\u65bc 2023 \u5e74\u5728\u300a\u79d1\u5b78\u300b\u4e2d\u767c\u8868\u7684\u7814\u7a76\u986f\u793a\uff0c\u540c\u6a23\u91dd\u5c0d\u82f1\u570b\u751f\u7269\u6a23\u672c\u5eab\uff08UK Biobank\uff09\u4e2d\u903e 45 \u842c\u500b\u500b\u9ad4\uff0cPrimateAI-3D \u5728\u767c\u73fe\u65b0\u7684\u85e5\u7269\u6a19\u9776\u65b9\u9762\u7684\u8868\u73fe\u986f\u8457\u512a\u65bc\u7f8e\u570b\u67d0\u85e5\u5ee0\u65bc 2021 \u5e74\u9032\u884c\u7684\u7814\u7a76\u3002\u5c55\u671b\u672a\u4f86\uff0c\u5718\u968a\u5c07\u6703\u8207\u4e0d\u540c\u7684\u5927\u85e5\u5ee0\u4ee5\u53ca\u570b\u5bb6\u7d1a\u57fa\u56e0\u5b9a\u5e8f\u8a08\u756b\u5408\u4f5c\uff0c\u671f\u671b\u5c07\u6f14\u7b97\u6cd5\u7684\u61c9\u7528\u7bc4\u570d\u5f9e\u9ad8\u81bd\u56fa\u9187\u9019\u985e\u6bd4\u8f03\u666e\u904d\u7684\u5065\u5eb7\u554f\u984c\u62d3\u5c55\u81f3\u7f55\u898b\u591a\u767c\u6027\u786c\u5316\u75c7\u3001\u5e15\u91d1\u68ee\u6c0f\u75c7\u7b49\u76f8\u8f03\u7f55\u898b\u7684\u75be\u75c5\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u6a0a\u535a\u58eb\u5728\u6f14\u8b1b\u4e2d\u4e5f\u63d0\u5230\u300c\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08Polygenic Risk Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002 AI \u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u52a0\u901f\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8 \u96a8\u8457\u6a5f\u5668\u5b78\u7fd2\u3001\u4eba\u5de5\u667a\u6167\u548c\u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u6a0a\u535a\u58eb\u53ca\u5176\u5718\u968a\u9084\u9032\u4e00\u6b65\u958b\u767c\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u8def\u70ba\u57fa\u790e\u7684 SpliceAI\uff0c\u53ef\u5229\u7528 RNA \u5b9a\u5e8f\uff08RNA-seq\uff09\uff0c\u91dd\u5c0d\u500b\u5225\u7d44\u7e54\u6216\u75be\u75c5\uff0c\u9810\u6e2c\u76f8\u95dc\u7684\u9078\u64c7\u6027\u526a\u63a5\uff08Alternative splicing\uff09\u6a21\u5f0f\u3001\u4ee5\u53ca\u6703\u64fe\u4e82\u57fa\u56e0\u526a\u63a5\u7684\u975e\u7de8\u78bc\u8b8a\u7570\uff08Non-coding variants\uff09\uff0c\u4e26\u8b58\u5225\u75c5\u4eba\u7d30\u80de\u4e2d\u7570\u5e38\u7684\u526a\u63a5\u554f\u984c\u3002\u73fe\u6642 SpliceAI \u7684\u6e96\u78ba\u5ea6\u53ef\u9054 95%\uff0c\u9060\u8d85\u904e\u73fe\u6709\u529f\u80fd\u985e\u4f3c\u7684 AI \u6f14\u7b97\u6cd5\u3002\u4ee5\u81ea\u9589\u75c7\u70ba\u4f8b\uff0c\u784f\u7a76\u5718\u968a\u5728 28 \u540d\u672a\u78ba\u8a3a\u7684\u81ea\u9589\u75c7\u60a3\u8005\u4e2d\uff0c\u9810\u6e2c\u4e86 75\uff05 \u60a3\u8005\u4e2d\u57fa\u56e0\u9ad4\u767c\u751f\u7570\u5e38\u526a\u63a5\u7684\u4f4d\u9ede\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u5718\u968a\u4e5f\u6301\u7e8c\u958b\u767c\u65b0\u7684\u61c9\u7528\uff0c\u5305\u62ec\u4e00\u6b3e\u540d\u70ba perturb-seq \u7684\u57fa\u56e0\u7de8\u8f2f\u6280\u8853\u3002\u5176\u539f\u7406\u662f\u5c07\u6bcf\u9846\u7d30\u80de\u8996\u70ba\u4e00\u500b\u5be6\u9a57\uff0c\u7814\u7a76\u4eba\u54e1\u5c07\u4e0d\u540c\u57fa\u56e0\u8b8a\u7570\u63d2\u5165\u55ae\u500b\u7d30\u80de\uff0c\u8b93\u6bcf\u9846\u7d30\u80de\u90fd\u5e36\u6709\u4e00\u500b\u8b8a\u7570\uff0c\u63a5\u4e0b\u4f86\u518d\u4ee5\u55ae\u7d30\u80de RNA \u5b9a\u5e8f\u5206\u6790\u9019\u4e9b\u8b8a\u7570\u5982\u4f55\u5f71\u97ff\u7d30\u80de\u529f\u80fd\uff0c\u4e26\u904b\u7528\u6a5f\u5668\u5b78\u7fd2\u6f14\u7b97\u6cd5\u8a55\u4f30\u6bcf\u500b\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u3002\u76ee\u524d\u5718\u968a\u5df2\u501f\u52a9\u6b64\u6280\u8853\u6210\u529f\u7834\u89e3\u6d89\u53ca\u00a0TP53\u3001CDKN2A \u548c SOD1 \u57fa\u56e0\u5408\u5171\u903e 5,000 \u500b\u8b8a\u7570\uff0c\u7576\u4e2d\u524d\u5169\u8005\u662f\u5e38\u898b\u7684\u816b\u7624\u6291\u5236\u57fa\u56e0\u3002\u6a0a\u535a\u58eb\u8a8d\u70ba\uff0c\u9019\u9805\u6280\u8853\u672a\u4f86\u53ef\u52a0\u901f\u7f55\u898b\u75be\u75c5\u7684\u8a3a\u65b7\u3002\u6700\u5f8c\u4ed6\u4e5f\u8868\u793a\uff0c\u96a8\u8457\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8\uff0c\u5982\u4f55\u63a8\u52d5\u7fa4\u9ad4\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff0c\u6700\u7d42\u9084\u662f\u6709\u8cf4\u4eba\u5de5\u667a\u6167\u7684\u6280\u8853\u5354\u52a9\u3002\u800c Illumina 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\u4ee5 AI \u8fa8\u8b58\u4eba\u985e\u81f4\u75c5\u8b8a\u7570\uff0c\u63d0\u5347\u85e5\u7269\u767c\u73fe\u53ca\u81e8\u5e8a\u8a66\u9a57\u6210\u529f\u6a5f\u7387 \u9664\u4e86\u6e96\u78ba\u5206\u8fa8\u4eba\u985e\u57fa\u56e0\u9ad4\u7684\u8b8a\u7570\uff0c\u6a0a\u535a\u58eb\u8868\u793a PrimateAl-3D \u6f14\u7b97\u6cd5\u4e5f\u6709\u52a9\u65bc\u7a81\u7834\u6a19\u9776\u85e5\u7269\u958b\u767c\u7684\u95dc\u9375\u74f6\u9838\uff0c\u5f9e\u800c\u5927\u5e45\u63d0\u9ad8\u85e5\u7269\u958b\u767c\u548c\u81e8\u5e8a\u8a66\u9a57\u7684\u6210\u529f\u7387\u3002\u4ee5 LDLR \u548c CDSK9 \u9019\u5169\u500b\u57fa\u56e0\u70ba\u4f8b\uff0c\u5b83\u5011\u6240\u7de8\u78bc\u7684\u86cb\u767d\u662f\u8207\u9ad8\u81bd\u56fa\u9187\u8840\u75c7\u548c\u5fc3\u8840\u7ba1\u75be\u75c5\u5bc6\u5207\u76f8\u95dc\u7684\u751f\u7269\u6a19\u8a18\u7269\uff0c\u900f\u904e\u5229\u7528\u6b64 AI \u6f14\u7b97\u6cd5\u63a8\u4f30\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u8a55\u5206\uff08PrimateAI-3D 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\u9019\u4e9b\u767c\u73fe\u5c07\u6709\u52a9\u79d1\u5b78\u5bb6\u66f4\u6709\u6548\u627e\u51fa\u85e5\u7269\u6a19\u9776\uff0c\u7e7c\u800c\u958b\u767c\u6a21\u4eff\u81ea\u7136\u907a\u50b3\u8b8a\u7570\u7684\u85e5\u7269\u3002\u4e8b\u5be6\u4e0a\uff0c\u501f\u52a9 AI \u642d\u914d\u907a\u50b3\u5b78\u5206\u6790\uff0c\u5718\u968a\u5df2\u7d93\u627e\u51fa\u9020\u6210 LDL \u7570\u5e38\u7d2f\u7a4d\u7684\u8def\u5f91\uff0c\u8b93\u85e5\u5ee0\u80fd\u5920\u91dd\u5c0d\u7576\u4e2d\u7684\u95dc\u9375\u8b8a\u7570\u53ca\u751f\u7269\u6a19\u8a18\u7269\u7814\u767c\u6a19\u9776\u7642\u6cd5\uff0c\u4f30\u8a08\u76f8\u95dc\u85e5\u7269\uff08\u4f8b\u5982 PCSK9\u3001ANGPTL3\/4 \u6216 NPC1L1 \u7684\u6291\u5236\u5291\uff09\u7684\u5e02\u5834\u898f\u6a21\u9054\u6578\u5341\u5104\u7f8e\u5143\u8a08\u3002\u6b64\u5916\uff0c\u5718\u968a\u53e6\u4e00\u500b\u65bc 2023 \u5e74\u5728\u300a\u79d1\u5b78\u300b\u4e2d\u767c\u8868\u7684\u7814\u7a76\u986f\u793a\uff0c\u540c\u6a23\u91dd\u5c0d\u82f1\u570b\u751f\u7269\u6a23\u672c\u5eab\uff08UK Biobank\uff09\u4e2d\u903e 45 \u842c\u500b\u500b\u9ad4\uff0cPrimateAI-3D \u5728\u767c\u73fe\u65b0\u7684\u85e5\u7269\u6a19\u9776\u65b9\u9762\u7684\u8868\u73fe\u986f\u8457\u512a\u65bc\u7f8e\u570b\u67d0\u85e5\u5ee0\u65bc 2021 \u5e74\u9032\u884c\u7684\u7814\u7a76\u3002\u5c55\u671b\u672a\u4f86\uff0c\u5718\u968a\u5c07\u6703\u8207\u4e0d\u540c\u7684\u5927\u85e5\u5ee0\u4ee5\u53ca\u570b\u5bb6\u7d1a\u57fa\u56e0\u5b9a\u5e8f\u8a08\u756b\u5408\u4f5c\uff0c\u671f\u671b\u5c07\u6f14\u7b97\u6cd5\u7684\u61c9\u7528\u7bc4\u570d\u5f9e\u9ad8\u81bd\u56fa\u9187\u9019\u985e\u6bd4\u8f03\u666e\u904d\u7684\u5065\u5eb7\u554f\u984c\u62d3\u5c55\u81f3\u7f55\u898b\u591a\u767c\u6027\u786c\u5316\u75c7\u3001\u5e15\u91d1\u68ee\u6c0f\u75c7\u7b49\u76f8\u8f03\u7f55\u898b\u7684\u75be\u75c5\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u6a0a\u535a\u58eb\u5728\u6f14\u8b1b\u4e2d\u4e5f\u63d0\u5230\u300c\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08Polygenic Risk Score\uff0cPRS\uff09\u300d\u5e36\u4f86\u7684\u6311\u6230\u3002\u7c21\u55ae\u800c\u8a00\uff0cPRS \u5c31\u662f\u6839\u64da\u500b\u9ad4\u4e2d\u591a\u500b\u57fa\u56e0\u7684\u8b8a\u7570\u72c0\u6cc1\uff0c\u4ee5\u7d71\u8a08\u5b78\u65b9\u6cd5\u8a08\u7b97\u51fa\u4e00\u500b\u4eba\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\u7684\u98a8\u96aa\u3002\u5728\u7f55\u898b\u8b8a\u7570\u591a\u57fa\u56e0\u98a8\u96aa\u8a55\u5206\uff08PRS\uff09\u65b9\u9762\uff0c\u986f\u793a\u7f55\u898b\u8b8a\u7570 PRS \u80fd\u5920\u6709\u6548\u8b58\u5225\u75be\u75c5\u98a8\u96aa\u6700\u9ad8\u7684\u500b\u9ad4\uff0c\u7279\u5225\u662f\u81bd\u56fa\u9187\u7570\u5e38\u548c 2 \u578b\u7cd6\u5c3f\u75c5\u98a8\u96aa\u3002\u5728\u8de8\u65cf\u7fa4\u901a\u7528\u6027\u65b9\u9762\uff0c\u7f55\u898b\u8b8a\u7570 PRS \u5728\u975e\u6b50\u6d32\u65cf\u7fa4\u4e2d\u7684\u8868\u73fe\u826f\u597d\uff0c\u5448\u73fe\u51fa\u6bd4\u5e38\u898b\u8b8a\u7570 PRS \u66f4\u9ad8\u7684\u76f8\u95dc\u6027\u3002 AI \u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u52a0\u901f\u7cbe\u6e96\u91ab\u5b78\u6642\u4ee3\u4f86\u81e8 \u96a8\u8457\u6a5f\u5668\u5b78\u7fd2\u3001\u4eba\u5de5\u667a\u6167\u548c\u57fa\u56e0\u7d44\u5b78\u6280\u8853\u9577\u8db3\u9032\u6b65\uff0c\u6a0a\u535a\u58eb\u53ca\u5176\u5718\u968a\u9084\u9032\u4e00\u6b65\u958b\u767c\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u8def\u70ba\u57fa\u790e\u7684 SpliceAI\uff0c\u53ef\u5229\u7528 RNA \u5b9a\u5e8f\uff08RNA-seq\uff09\uff0c\u91dd\u5c0d\u500b\u5225\u7d44\u7e54\u6216\u75be\u75c5\uff0c\u9810\u6e2c\u76f8\u95dc\u7684\u9078\u64c7\u6027\u526a\u63a5\uff08Alternative splicing\uff09\u6a21\u5f0f\u3001\u4ee5\u53ca\u6703\u64fe\u4e82\u57fa\u56e0\u526a\u63a5\u7684\u975e\u7de8\u78bc\u8b8a\u7570\uff08Non-coding variants\uff09\uff0c\u4e26\u8b58\u5225\u75c5\u4eba\u7d30\u80de\u4e2d\u7570\u5e38\u7684\u526a\u63a5\u554f\u984c\u3002\u73fe\u6642 SpliceAI \u7684\u6e96\u78ba\u5ea6\u53ef\u9054 95%\uff0c\u9060\u8d85\u904e\u73fe\u6709\u529f\u80fd\u985e\u4f3c\u7684 AI \u6f14\u7b97\u6cd5\u3002\u4ee5\u81ea\u9589\u75c7\u70ba\u4f8b\uff0c\u784f\u7a76\u5718\u968a\u5728 28 \u540d\u672a\u78ba\u8a3a\u7684\u81ea\u9589\u75c7\u60a3\u8005\u4e2d\uff0c\u9810\u6e2c\u4e86 75\uff05 \u60a3\u8005\u4e2d\u57fa\u56e0\u9ad4\u767c\u751f\u7570\u5e38\u526a\u63a5\u7684\u4f4d\u9ede\u3002 \u53e6\u4e00\u65b9\u9762\uff0c\u5718\u968a\u4e5f\u6301\u7e8c\u958b\u767c\u65b0\u7684\u61c9\u7528\uff0c\u5305\u62ec\u4e00\u6b3e\u540d\u70ba perturb-seq \u7684\u57fa\u56e0\u7de8\u8f2f\u6280\u8853\u3002\u5176\u539f\u7406\u662f\u5c07\u6bcf\u9846\u7d30\u80de\u8996\u70ba\u4e00\u500b\u5be6\u9a57\uff0c\u7814\u7a76\u4eba\u54e1\u5c07\u4e0d\u540c\u57fa\u56e0\u8b8a\u7570\u63d2\u5165\u55ae\u500b\u7d30\u80de\uff0c\u8b93\u6bcf\u9846\u7d30\u80de\u90fd\u5e36\u6709\u4e00\u500b\u8b8a\u7570\uff0c\u63a5\u4e0b\u4f86\u518d\u4ee5\u55ae\u7d30\u80de RNA 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\u4ea6\u81f4\u529b\u5728\u76f8\u95dc\u9818\u57df\u63d0\u4f9b\u9818\u5148\u696d\u754c\u7684\u670d\u52d9\u548c\u89e3\u6c7a\u65b9\u6848\uff0c\u5354\u52a9\u5404\u5927\u85e5\u5ee0\u52a0\u901f\u85e5\u7269\u958b\u767c\u3002 \u6a0a\u93a7\u8c6a\u535a\u58eb\u8b1b\u89e3\u5982\u4f55\u4ee5\u6df1\u5ea6\u795e\u7d93\u7db2\u7d61\u6280\u8853\u9810\u6e2c\u57fa\u56e0\u526a\u63a5\u6a21\u5f0f\u3002 \u53c3\u8003\u8cc7\u6599\uff1a https:\/\/www.linkedin.com\/in\/kyle-kai-how-farh-md-phd-8002bba7\/ https:\/\/sapac.illumina.com\/science\/genomics-research\/articles\/primateai-3d.html https:\/\/www.primad.basespace.illumina.com https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ https:\/\/www.science.org\/doi\/10.1126\/science.abn8197 https:\/\/www.chop.edu\/conditions-diseases\/cacna1a-related-disorders https:\/\/www.genome.gov\/Health\/Genomics-and-Medicine\/Polygenic-risk-scores https:\/\/www.science.org\/doi\/10.1126\/science.abo1131 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