{"id":36521,"date":"2025-01-13T04:00:20","date_gmt":"2025-01-12T20:00:20","guid":{"rendered":"https:\/\/17aitech.com\/?p=36521"},"modified":"2025-01-13T04:00:20","modified_gmt":"2025-01-12T20:00:20","slug":"%e7%b2%be%e5%87%86%e9%a2%84%e6%b5%8brna%e5%8f%af%e5%8f%98%e5%89%aa%e6%8e%a5%ef%bc%8c%e6%b5%99%e5%a4%a7%e5%a4%9a%e6%a8%a1%e6%80%81%e6%b7%b1%e5%ba%a6%e5%ad%a6%e4%b9%a0%e6%a8%a1%e5%9e%8bsptransformer","status":"publish","type":"post","link":"https:\/\/17aitech.com\/?p=36521","title":{"rendered":"\u7cbe\u51c6\u9884\u6d4bRNA\u53ef\u53d8\u526a\u63a5\uff0c\u6d59\u5927\u591a\u6a21\u6001\u6df1\u5ea6\u5b66\u4e60\u6a21\u578bSpTransformer\u767bNature\u5b50\u520a"},"content":{"rendered":"

\u6587\u7ae0\u6765\u6e90\u4e8e\u4e92\u8054\u7f51:\u7cbe\u51c6\u9884\u6d4bRNA\u53ef\u53d8\u526a\u63a5\uff0c\u6d59\u5927\u591a\u6a21\u6001\u6df1\u5ea6\u5b66\u4e60\u6a21\u578bSpTransformer\u767bNature\u5b50\u520a<\/a><\/p>\n

<\/a><\/p>\n

\u7ec4\u7ec7\u7279\u5f02\u6027\u53ef\u53d8\u526a\u63a5\u5206\u6790\u7b97\u6cd5 SpTransformer \u7684\u6982\u5ff5\u56fe<\/mark>\u3002\uff08\u6765\u6e90\uff1a\u6d59\u5927\uff09<\/p>\n

\u4f5c\u8005 | \u6d59\u6c5f\u5927\u5b66\u826f\u6e1a\u5b9e\u9a8c\u5ba4\u6c88\u5b81\/\u5218\u5fd7\u7ea2\u8bfe\u9898\u7ec4<\/p>\n

\u7f16\u8f91 |\u00a0ScienceAI<\/p>\n

RNA \u53ef\u53d8\u526a\u63a5\uff08Alternative splicing\uff09\u662f\u57fa\u56e0\u8f6c\u5f55\u540e\u4e00\u79cd\u91cd\u8981\u7684\u8c03\u63a7\u673a\u5236\uff0c\u4e5f\u662f\u751f\u7269\u4f53\u591a\u6837\u6027\u548c\u86cb\u767d\u8d28\u591a\u529f\u80fd\u6027\u7684\u91cd\u8981\u6765\u6e90\u4e4b\u4e00\u3002\u4eba\u7c7b\u7ea6 90% \u4ee5\u4e0a\u7684\u57fa\u56e0\u5b58\u5728\u53ef\u53d8\u526a\u63a5\uff0c\u4e0d\u540c\u7ec4\u7ec7\u4e0e\u7ec6\u80de\u7c7b\u578b\u4e2d\u53ef\u53d8\u526a\u63a5\u7684\u591a\u5143\u6027\u4fc3\u8fdb\u4e86\u7ec6\u80de\u8868\u578b\u7684\u591a\u6837\u6027\u3002\u540c\u65f6\uff0c\u5f15\u8d77 RNA \u53ef\u53d8\u526a\u63a5\u7684\u53d8\u5f02\u4e5f\u4e0e\u4eba\u7c7b\u591a\u79cd\u9057\u4f20\u75be\u75c5\u76f8\u5173\u3002<\/p>\n

\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0cRNA \u53ef\u53d8\u526a\u63a5\u5177\u6709\u7ec4\u7ec7\u7279\u5f02\u6027\uff0c\u76f8\u540c\u7684 pre-mRNA \u5e8f\u5217\u80fd\u4ee5\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u5f62\u5f0f\u53d1\u751f\u53ef\u53d8\u526a\u63a5\uff0c\u4ece\u800c\u4ea7\u751f\u591a\u6837\u6027\u7684\u8f6c\u5f55\u7ec4\u548c\u86cb\u767d\u8d28\u7ec4\u8868\u8fbe\u3002\u7136\u800c\uff0c\u73b0\u6709\u7b97\u6cd5\u65e0\u6cd5\u9884\u6d4b\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u53ef\u53d8\u526a\u63a5\uff0c\u56e0\u6b64\u4e9f\u9700\u5f00\u53d1\u80fd\u591f\u7cbe\u51c6\u9884\u6d4b\u7ec4\u7ec7\u7279\u5f02\u6027\u53ef\u53d8\u526a\u63a5\u7684\u7b97\u6cd5\u5de5\u5177\uff0c\u52a0\u6df1\u6211\u4eec\u5bf9\u4e8e\u9057\u4f20\u53d8\u5f02\u7684\u89e3\u8bfb\u53ca\u540e\u7eed\u7814\u7a76\u3002<\/p>\n

\u8fd1\u65e5\uff0c\u6d59\u6c5f\u5927\u5b66\u826f\u6e1a\u5b9e\u9a8c\u5ba4\u6c88\u5b81\/\u5218\u5fd7\u7ea2\u8bfe\u9898\u7ec4\u5f00\u53d1\u4e86\u57fa\u4e8e Transformer \u67b6\u6784\u7684\u591a\u6a21\u6001\u6df1\u5ea6\u5b66\u4e60<\/mark>\u6a21\u578b SpliceTransformer\uff08\u7b80\u79f0 SpTransformer\uff09\uff0c\u7528\u4e8e\u9884\u6d4b pre-mRNA \u5e8f\u5217\u4e2d\u7684\u7ec4\u7ec7\u7279\u5f02\u6027\u53ef\u53d8\u526a\u63a5\u4f4d\u70b9\u3002SpTransformer \u53ef\u4ee5\u7528\u4e8e\u89e3\u6790\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u53d8\u5f02\u76f8\u5173\u7684\u75be\u75c5\uff0c\u4e3a\u75be\u75c5\u76f8\u5173\u9057\u4f20\u53d8\u5f02\u63d0\u4f9b\u57fa\u4e8e\u53ef\u53d8\u526a\u63a5\u673a\u5236\u7684\u5168\u65b0\u89c1\u89e3\u3002<\/p>\n

\u76f8\u5173\u7814\u7a76\u4ee5\u300aSpliceTransformer predicts tissue-specific splicing linked to human diseases<\/em>\u300b\u4e3a\u9898\uff0c\u4e8e 2024 \u5e74 10 \u6708 23 \u65e5\u53d1\u8868\u5728\u300aNature Communications<\/em>\u300b\u4e0a\u3002<\/p>\n

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\u8bba\u6587\u94fe\u63a5\uff1ahttps:\/\/www.nature.com\/articles\/s41467-024-53088-6<\/em><\/p>\n

SpTransformer\uff1a\u57fa\u4e8e Transformer \u7684\u8ba1\u7b97\u67b6\u6784<\/strong><\/p>\n

SpTransformer \u5728\u8bad\u7ec3\u6570\u636e\u548c\u7b97\u6cd5\u67b6\u6784\u4e0a\u5747\u6709\u6240\u521b\u65b0\u3002<\/p>\n

<\/a><\/p>\n

\u56fe 1\uff1aSpTransformer \u6a21\u578b\u4ec5\u4ee5\u5e8f\u5217\u4e3a\u8f93\u5165\uff0c\u9884\u6d4b 15 \u79cd\u4eba\u4f53\u7ec4\u7ec7\u4e2d\u7684\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u3002\u8be5\u6a21\u578b\u53ef\u7528\u4e8e\u8bc4\u4f30\u9057\u4f20\u53d8\u5f02\u5e76\u9884\u6d4b\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u526a\u63a5\u53d8\u5316\uff0c\u5176\u6027\u80fd\u660e\u663e\u4f18\u4e8e\u5176\u4ed6\u5df2\u6709\u7b97\u6cd5\u3002\uff08\u6765\u6e90\uff1a\u8bba\u6587\uff09<\/p>\n

SpTransformer \u57fa\u4e8e GTEx \u4eba\u4f53\u7ec4\u7ec7 RNA-seq \u6570\u636e\u548c\u989d\u5916\u7684\u54fa\u4e73\u52a8\u7269\uff08\u6052\u6cb3\u7334\u3001\u5c0f\u9f20\u3001\u5927\u9f20\uff09\u7ec4\u7ec7\u7684 RNA-seq \u6570\u636e\u8bad\u7ec3\uff0c\u4ece\u591a\u4e2a\u6570\u636e\u96c6\u4e2d\u5b66\u4e60\u53ef\u53d8\u526a\u63a5\u76f8\u5173\u7684\u5e8f\u5217\u7279\u5f81\u3002\u6a21\u578b\u4f7f\u7528 one-hot \u7f16\u7801\u7684 pre-mRNA \u5e8f\u5217\u4f5c\u4e3a\u8f93\u5165\u3002\u5e8f\u5217\u7ecf\u8fc7\u5377\u79ef\u7f16\u7801\u5668\u5904\u7406\u540e\uff0c\u901a\u8fc7\u4e00\u4e2a 8 \u5c42\u5305\u542b\u81ea\u6ce8\u610f\u529b<\/mark>\u6a21\u5757\u7684 Transformer \u7f51\u7edc\uff0c\u8f93\u51fa\u591a\u6807\u7b7e\u5206\u7c7b\u7ed3\u679c\u3002<\/p>\n

\u8be5\u65b9\u6cd5\u57fa\u4e8e 9000nt~15000nt \u7684\u957f\u5e8f\u5217\u4e0a\u4e0b\u6587\u4fe1\u606f\uff0c\u5bf9\u8f93\u5165\u5e8f\u5217\u4e2d\u592e\u7684 1000nt \u957f\u5ea6\u5e8f\u5217\u540c\u65f6\u505a\u9884\u6d4b\uff0c\u65e2\u80fd\u9884\u6d4b\u51fa\u5e8f\u5217\u4e2d\u5b58\u5728\u7684\u53ef\u53d8\u526a\u63a5\u4f4d\u70b9\uff0c\u4e5f\u80fd\u4e3a\u6bcf\u4e2a\u4f4d\u70b9\u8fdb\u884c\u591a\u6807\u7b7e\u5206\u7c7b\uff0c\u9884\u6d4b\u4f4d\u70b9\u5728 15 \u4e2a\u4e3b\u8981\u4eba\u4f53\u7ec4\u7ec7\u4e2d\u662f\u5426\u4f1a\u88ab\u4f7f\u7528\u5230\u3002<\/p>\n

\u4e3a\u4e86\u8003\u8651\u5c3d\u53ef\u80fd\u957f\u7684\u5e8f\u5217\u4e0a\u4e0b\u6587\u4fe1\u606f\uff0c\u6a21\u578b\u7ed3\u5408\u4e86\u5377\u79ef\u7f16\u7801\u548c Sparse Sinkhorn Attention \u7a00\u758f\u6ce8\u610f\u529b\u7b97\u6cd5\uff0c\u9f13\u52b1\u6a21\u578b\u8003\u8651\u8fdc\u7aef\u5e8f\u5217\u4e4b\u95f4\u4ee5\u7247\u6bb5\u4e3a\u5355\u4f4d\u7684\u4e92\u4f5c\u6548\u679c\uff0c\u800c\u907f\u514d\u9010\u4e00\u8ba1\u7b97\u78b1\u57fa\u548c\u78b1\u57fa\u4e4b\u95f4\u7684\u957f\u8ddd\u79bb\u4e92\u4f5c\u5173\u7cfb\uff0c\u8fd9\u6837\u7684\u505a\u6cd5\u5141\u8bb8\u6a21\u578b\u4ee5\u7ebf\u6027\u590d\u6742\u5ea6\u5904\u7406\u5927\u91cf\u6570\u636e\uff0c\u4ece\u800c\u89c4\u907f\u4e86\u4f20\u7edf Transformer \u6a21\u578b\u5904\u7406\u8d85\u957f\u5e8f\u5217\u65f6\u65e0\u6cd5\u627f\u53d7\u663e\u5b58\u5f00\u9500\u7684\u95ee\u9898\u3002\u6700\u7ec8\uff0c\u8be5\u6a21\u578b\u5bf9\u53ef\u53d8\u526a\u63a5\u7684\u9884\u6d4b\u7ed3\u679c\u660e\u663e\u4f18\u4e8e\u5df2\u6709\u7b97\u6cd5\uff0c\u4e14\u521b\u65b0\u5730\u5b9e\u73b0\u4e86\u5bf9\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u9884\u6d4b\uff08\u56fe 1\uff09\u3002<\/p>\n

\u4e4b\u540e\uff0c\u7814\u7a76\u8005\u9488\u5bf9\u6a21\u578b\u7684\u53ef\u89e3\u91ca\u6027\u8fdb\u884c\u4e86\u63a2\u7d22\u3002\u7814\u7a76\u8005\u901a\u8fc7\u53ef\u89c6\u5316\u5206\u6790\u6a21\u578b\u8003\u8651\u4e0d\u540c\u5e8f\u5217\u5143\u4ef6\u7684\u6743\u91cd<\/mark>\uff0c\u53d1\u73b0 SpTransformer \u6a21\u578b\u53ef\u4ee5\u6210\u529f\u53d1\u73b0 1000 bp \u4ee5\u5916\u7684\u8fdc\u7aef\u5e8f\u5217\u8c03\u63a7\u5143\u4ef6\u5bf9\u53ef\u53d8\u526a\u63a5\u7684\u5f71\u54cd\u3002\u540c\u65f6\uff0c\u6a21\u578b\u5728\u9884\u6d4b\u4e0d\u540c\u7ec4\u7ec7\u7684\u53ef\u53d8\u526a\u63a5\u65f6\uff0c\u4f1a\u8003\u8651\u4e0d\u540c\u7684\u5e8f\u5217 motif\uff0c\u5176\u4e2d\u65e2\u6709\u5df2\u77e5\u7684\u7ecf\u5178\u5e8f\u5217\u8c03\u63a7\u5143\u4ef6\uff0c\u4e5f\u5305\u542b\u672a\u88ab\u7814\u7a76\u8fc7\u7684 de novo motif\u3002<\/p>\n

\u9884\u6d4b\u75be\u75c5\u76f8\u5173\u7684\u7ec4\u7ec7\u7279\u5f02\u6027\u53ef\u53d8\u526a\u63a5<\/strong><\/p>\n

\u968f\u540e\uff0c\u7814\u7a76\u8005\u5e94\u7528 SpTransformer \u9884\u6d4b\u5355\u6838\u82f7\u9178\u7a81\u53d8\uff08single nucleotide variant\uff0cSNV\uff09\u5bf9\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u5f71\u54cd\u3002\u901a\u8fc7\u5206\u522b\u9884\u6d4b\u7a81\u53d8\u524d\u5e8f\u5217\u548c\u7a81\u53d8\u540e\u5e8f\u5217\u7684\u526a\u63a5\u60c5\u51b5\uff0c\u5e76\u8ba1\u7b97\u5b83\u4eec\u9884\u6d4b\u5206\u6570\u7684\u5dee\u5f02\uff0c\u6a21\u578b\u4ee5\u6570\u5b66\u65b9\u6cd5\u5c06\u7a81\u53d8\u5bf9\u76ee\u6807\u533a\u57df\u53ef\u53d8\u526a\u63a5\u7684\u5f71\u54cd\u91cf\u5316<\/mark>\u4e3a \u0394Splice \u5206\u6570\uff08\u56fe 2\uff09\u3002<\/p>\n

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\u56fe 2\uff1aSpTransformer \u6a21\u578b\u53ef\u7528\u4e8e\u8bc4\u4f30\u7a81\u53d8\u5bf9\u526a\u63a5\u7684\u5f71\u54cd\u3002\uff08\u6765\u6e90\uff1a\u8bba\u6587\uff09<\/p>\n

\u7814\u7a76\u8005\u6279\u91cf\u9884\u6d4b\u4e86\u5927\u578b\u6570\u636e\u5e93<\/mark> ClinVar \u4e2d\u6536\u5f55\u7684 1,273,053 \u4e2a SNV\uff0c\u53d1\u73b0\u7a81\u53d8\u7684\u81f4\u75c5\u6027\u548c\u5f71\u54cd\u53ef\u53d8\u526a\u63a5\u7684\u60c5\u51b5\u6709\u8f83\u5f3a\u7684\u5173\u8054\u3002\u5728\u975e\u7f16\u7801\u533a\u57df\u7a81\u53d8\u4e2d\uff0c\u901a\u8fc7 SpTransformer \u7ed9\u51fa\u7684 \u0394Splice \u5206\u6570\uff0c\u80fd\u4ee5\u8d85\u8fc7 0.98 \u7684 ROC-AUC \u533a\u5206\u81f4\u75c5\uff08Pathogenic\uff09\u548c\u826f\u6027\uff08Benign\uff09\u7a81\u53d8\u3002\u540c\u65f6\uff0c\u6a21\u578b\u5c06\u5927\u91cf\u539f\u672c\u6807\u6ce8\u4e3a\u6548\u679c\u672a\u77e5\uff08Uncertain significance\uff09\u7684\u7a81\u53d8\u6ce8\u91ca\u4e3a\u5f71\u54cd\u53ef\u53d8\u526a\u63a5\uff0c\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u586b\u8865\u4e86\u7a81\u53d8\u6548\u5e94\u6ce8\u91ca\u7684\u7a7a\u767d\u3002<\/p>\n

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\u56fe 3\uff1aSpTransformer \u6a21\u578b\u53ef\u7528\u4e8e\u8bc4\u4f30\u7a81\u53d8\u5bf9\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u5f71\u54cd\uff0c\u5e76\u4ece\u5927\u89c4\u6a21\u6570\u636e\u5206\u6790<\/mark>\u4e2d\u8bc6\u522b\u53ef\u80fd\u5f71\u54cd\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u7a81\u53d8\u53ca\u5176\u5bcc\u96c6\u7684\u57fa\u56e0\u3002\uff08\u6765\u6e90\uff1a\u8bba\u6587\uff09<\/p>\n

\u5c3d\u7ba1\u53ef\u53d8\u526a\u63a5\u7684\u7ec4\u7ec7\u7279\u5f02\u6027\u65e9\u5df2\u4e3a\u4eba\u6240\u77e5\uff0c\u4f46\u7a81\u53d8\u5982\u4f55\u5f71\u54cd\u8fd9\u79cd\u7279\u5f02\u6027\u526a\u63a5\u4ecd\u7136\u662f\u4e2a\u672a\u5145\u5206\u63a2\u7d22\u7684\u9886\u57df\u3002\u4e3a\u8bc4\u4f30\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff08SNV\uff09\u5bf9\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u5f71\u54cd\uff0c\u7814\u7a76\u8005\u5f00\u53d1\u4e86 Tissue z-score \u5206\u6570\uff0c\u7528\u4ee5\u8861\u91cf\u7a81\u53d8\u5bf9\u7279\u5b9a\u7ec4\u7ec7\u4e2d\u526a\u63a5\u6a21\u5f0f\u7684\u5f71\u54cd\u662f\u5426\u663e\u8457\u9ad8\u4e8e\u5176\u4ed6\u7ec4\u7ec7\u3002<\/p>\n

\u901a\u8fc7\u5206\u6790 GTEx RNA-seq \u6570\u636e\u4e2d\u7684\u975e\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u4f4d\u70b9\uff0c\u5e76\u6a21\u62df\u8fd9\u4e9b\u4f4d\u70b9\u9644\u8fd1\u53d1\u751f\u968f\u673a\u7a81\u53d8\uff0c\u7814\u7a76\u8005\u5efa\u7acb\u4e86\u7528\u4e8e\u53c2\u8003\u7684\u7edf\u8ba1\u5b66\u5206\u5e03\u3002\u5f53\u5f85\u9884\u6d4b SNV \u7684 Tissue z-score \u660e\u663e\u5927\u4e8e\u53c2\u8003\u5206\u5e03\u4e2d\u7684\u503c\u65f6\uff0c\u5c31\u8ba4\u4e3a\u8be5 SNV \u5177\u6709\u7ec4\u7ec7\u7279\u5f02\u6027\u3002\u5229\u7528\u8fd9\u79cd\u65b9\u6cd5\uff0c\u7814\u7a76\u8005\u4ece ClinVar \u6570\u636e\u5e93<\/mark>\u4e2d\u8bc6\u522b\u51fa\u53ef\u80fd\u5f71\u54cd\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u7a81\u53d8\u53ca\u5176\u5bcc\u96c6\u7684\u57fa\u56e0\uff08\u56fe 3\uff09\u3002\u7814\u7a76\u7ed3\u679c\u663e\u793a\uff0c\u8fd9\u4e9b\u57fa\u56e0\u591a\u4e0e\u76f8\u5173\u7ec4\u7ec7\u7684\u9057\u4f20\u75be\u75c5\u6709\u5173\uff0c\u4f46\u4e0d\u4e00\u5b9a\u8868\u73b0\u51fa\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u8868\u8fbe\u6a21\u5f0f\u3002<\/p>\n

<\/a><\/p>\n

\u56fe 4\uff1a\u7b97\u6cd5\u9488\u5bf9\u4e09\u79cd\u7cbe\u795e\u75be\u75c5\u6570\u636e\u5c55\u5f00\u5206\u6790\uff0c\u4ece\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u6539\u53d8\u89d2\u5ea6\u89e3\u8bfb\u7cbe\u795e\u75be\u75c5\u53d1\u751f\u7684\u6f5c\u5728\u673a\u5236\u3002\uff08\u6765\u6e90\uff1a\u8bba\u6587\uff09<\/p>\n

\u4e3a\u4e86\u6df1\u5165\u63a2\u8ba8 SpTransformer \u5728\u75be\u75c5\u8bca\u65ad\u548c\u6cbb\u7597\u4e2d\u7684\u5e94\u7528\u6f5c\u529b\uff0c\u7814\u7a76\u56e2\u961f\u5229\u7528\u8be5\u7b97\u6cd5\u5206\u6790\u4e86\u4e0e\u81ea\u95ed\u75c7\uff08Autism\uff09\uff0c\u7cbe\u795e\u5206\u88c2\u75c7\uff08Schizophrenia\uff09\u548c\u53cc\u76f8\u7cbe\u795e\u969c\u788d\uff08Bipolar disorder\uff09\u76f8\u5173\u7684\u8d85\u8fc7 17 \u4e07\u4e2a\u6837\u672c\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u7ed3\u679c\u3002\u8fd9\u4e9b\u6837\u672c\u6db5\u76d6\u4e86\u60a3\u8005\u3001\u60a3\u8005\u5bb6\u5ead\u6210\u5458\u548c\u5065\u5eb7\u5bf9\u7167\u7ec4\u3002\u4ece\u8d85\u8fc7\u5343\u4e07\u7684\u672a\u77e5\u7a81\u53d8\u4e2d\uff0cSpTransformer \u7b5b\u9009\u51fa\u5927\u91cf\u53ef\u80fd\u5f71\u54cd\u53ef\u53d8\u526a\u63a5\u7684\u7a81\u53d8\u3002<\/p>\n

\u7814\u7a76\u8005\u6df1\u5165\u5206\u6790\u4e86\u8fd9\u4e9b\u5f71\u54cd\u526a\u63a5\u7684\u7a81\u53d8\uff0c\u53d1\u73b0\u8111\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u526a\u63a5\u6539\u53d8\u5728\u4e09\u79cd\u7c7b\u578b\u7684\u7cbe\u795e\u75be\u75c5\u4e2d\u5747\u6709\u663e\u8457\u5bcc\u96c6\u3002\u8fdb\u4e00\u6b65\u7684\u57fa\u56e0\u8868\u8fbe\u91cf\u5206\u6790\u63ed\u793a\uff0c\u8fd9\u4e9b\u7a81\u53d8\u6240\u5728\u7684\u57fa\u56e0\uff0c\u4e0d\u4ec5\u5305\u62ec\u5728\u5927\u8111\u4e2d\u7279\u5f02\u6027\u8868\u8fbe\u7684\uff0c\u4e5f\u5305\u542b\u5728\u591a\u6570\u7ec4\u7ec7\u4e2d\u5e7f\u6cdb\u8868\u8fbe\u7684\u57fa\u56e0\uff0c\u8868\u73b0\u51fa\u53cc\u5cf0\u5206\u5e03\u7684\u7279\u70b9\u3002<\/p>\n

GO \u5bcc\u96c6\u5206\u6790\uff08Gene Ontology enrichment analysis\uff09\u663e\u793a\uff0c\u7531\u6a21\u578b\u7b5b\u9009\u51fa\u7684\u57fa\u56e0\u4e0e\u8111\u7ec4\u7ec7\u529f\u80fd\u5b58\u5728\u7d27\u5bc6\u8054\u7cfb\uff08\u56fe 4\uff09\uff0c\u5728\u8111\u7ec4\u7ec7\u4e2d\u7279\u5f02\u6027\u8868\u8fbe\u7684\u57fa\u56e0\u901a\u5e38\u4e0e\u7a81\u89e6\u4fe1\u53f7\u4f20\u5bfc\u901a\u8def\u76f8\u5173\uff0c\u800c\u975e\u7ec4\u7ec7\u7279\u5f02\u6027\u8868\u8fbe\u7684\u57fa\u56e0\u5219\u5bcc\u96c6\u5728\u7ec6\u80de\u9aa8\u67b6\u76f8\u5173\u901a\u8def\u3002\u8fd9\u4e00\u53d1\u73b0\u8fdb\u4e00\u6b65\u63ed\u793a\u4e86\u8111\u7ec4\u7ec7\u4e2d\u7279\u5f02\u6027\u526a\u63a5\u548c\u7279\u5f02\u6027\u8868\u8fbe\u4e4b\u95f4\u5b58\u5728\u76f8\u5bf9\u72ec\u7acb\u6027\uff0c\u5373\u4f7f\u662f\u5728\u591a\u79cd\u7ec4\u7ec7\u4e2d\u666e\u904d\u8868\u8fbe\u7684\u57fa\u56e0\uff0c\u4e5f\u53ef\u80fd\u901a\u8fc7\u526a\u63a5\u53d8\u5f02\u5bf9\u8111\u7ec4\u7ec7\u4ea7\u751f\u91cd\u8981\u5f71\u54cd\uff0c\u8fdb\u800c\u53ef\u80fd\u5f15\u53d1\u76f8\u5173\u75be\u75c5\u3002<\/p>\n

\u540c\u65f6\uff0c\u867d\u7136\u4ece\u8fd9\u4e09\u79cd\u7cbe\u795e\u75be\u75c5\u4e2d\u7b5b\u9009\u51fa\u7684\u57fa\u56e0\u5bcc\u96c6\u5230\u4e86\u67d0\u4e9b\u76f8\u540c\u7684\u901a\u8def\uff0c\u4f46\u6bcf\u79cd\u75be\u75c5\u6709\u5176\u72ec\u7279\u7684\u81f4\u75c5\u57fa\u56e0\u53ca\u7a81\u53d8\u3002\u5927\u89c4\u6a21\u6587\u732e\u641c\u7d22\u7ed3\u679c\u663e\u793a\uff0c\u7531 SpTransformer \u8bc6\u522b\u7684\u8bb8\u591a\u57fa\u56e0\u5df2\u6709\u76f8\u5173\u6587\u732e\u652f\u6301\u5176\u4e0e\u7279\u5b9a\u75be\u75c5\u7684\u5173\u8054\uff0c\u8bc1\u660e\u4e86\u8be5\u5de5\u4f5c\u9884\u6d4b\u7684\u51c6\u786e\u6027\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u8f83\u591a\u65b0\u53d1\u73b0\u7684\u57fa\u56e0\uff0c\u76ee\u524d\u5c1a\u672a\u6709\u76f8\u5173\u7814\u7a76\u62a5\u9053\uff0c\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u4e3a\u672a\u6765\u7684\u7cbe\u795e\u75be\u75c5\u7814\u7a76\u63d0\u4f9b\u65b0\u7684\u7ebf\u7d22\u548c\u65b9\u5411\u3002<\/p>\n

\u6b64\u5916\uff0c\u7814\u7a76\u8005\u4e5f\u9488\u5bf9\u80be\u810f\u7279\u5f02\u6027\u526a\u63a5\u8fdb\u884c\u4e86\u8fdb\u4e00\u6b65\u7684\u6570\u636e\u5206\u6790<\/mark>\u3002\u6a21\u578b\u5728\u7cd6\u5c3f\u75c5\u80be\u75c5\u76f8\u5173\u6570\u636e\u4e0a\u8fdb\u884c\u5b9e\u6218\uff0c\u7ecf\u7531 RNA-seq \u65b9\u6cd5\u8fdb\u884c\u9a8c\u8bc1\uff0c\u4ee5 83% \u7684\u51c6\u786e\u7387<\/mark>\u9884\u6d4b\u51fa\u4e86\u5f71\u54cd\u80be\u810f\u4e2d\u53ef\u53d8\u526a\u63a5\u7684\u7a81\u53d8\u3002<\/p>\n

\u5177\u6709\u4e34\u5e8a\u4ef7\u503c\uff0c\u4e14\u5f00\u6e90<\/strong><\/p>\n

\u4ee5\u4e0a\u7ed3\u679c\u8868\u660e\uff0cSpTransformer \u4ece\u7ec4\u7ec7\u7279\u5f02\u6027\u53ef\u53d8\u526a\u63a5\u7684\u89d2\u5ea6\u51fa\u53d1\uff0c\u6709\u6f5c\u529b\u53d1\u73b0\u4f20\u7edf\u57fa\u56e0\u8868\u8fbe\u91cf\u5206\u6790\u65e0\u6cd5\u627e\u5230\u7684\u75be\u75c5\u6210\u56e0\u3002\u8fd9\u4e3a\u7406\u89e3\u75be\u75c5\u80cc\u540e\u7684\u9057\u4f20\u56e0\u7d20\u63d0\u4f9b\u4e86\u9664\u57fa\u56e0\u8868\u8fbe\u6c34\u5e73\u4ee5\u5916\u7684\u91cd\u8981\u89c6\u89d2\u3002\u8fdb\u4e00\u6b65\u5730\uff0c\u57fa\u4e8e\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u53ef\u53d8\u526a\u63a5\u5206\u6790\uff0c\u6709\u671b\u6210\u4e3a\u89e3\u6790\u590d\u6742\u75be\u75c5\u9057\u4f20\u673a\u5236\u7684\u5173\u952e\u65b9\u6cd5\u4e4b\u4e00\u3002<\/p>\n

\u7efc\u4e0a\uff0c\u8be5\u7814\u7a76\u5f00\u53d1\u4e86\u4e00\u4e2a\u7cbe\u51c6\u5730\u9884\u6d4b\u5177\u6709\u7ec4\u7ec7\u7279\u5f02\u6027\u7684\u53ef\u53d8\u526a\u63a5\u7684\u7b97\u6cd5\u5de5\u5177 SpTransformer\uff0c\u5e76\u901a\u8fc7\u5927\u91cf\u771f\u5b9e\u7a81\u53d8\u6570\u636e\uff0c\u9a8c\u8bc1\u4e86\u5176\u5728\u9057\u4f20\u8bca\u65ad\u4e2d\u9884\u6d4b\u7ec4\u7ec7\u7279\u5f02\u6027\u5f71\u54cd RNA \u53ef\u53d8\u526a\u63a5\u7684\u81f4\u75c5\u7a81\u53d8\u7684\u80fd\u529b\uff0c\u5177\u6709\u91cd\u8981\u4e34\u5e8a\u4ef7\u503c\u548c\u7814\u7a76\u610f\u4e49\u3002<\/p>\n

\u6587\u7ae0\u76f8\u5173\u4ee3\u7801\u5df2\u5f00\u6e90\uff0c\u53d1\u5e03\u5728 GitHub \u5e73\u53f0\uff08https:\/\/github.com\/ShenLab-Genomics\/SpliceTransformer<\/em>\uff09\u3002<\/p>\n

\u6b64\u5916\uff0c\u7814\u7a76\u8005\u8fd8\u63d0\u4f9b\u4e86\u4e00\u4e2a\u4fbf\u6377\u7684\u5728\u7ebf\u670d\u52a1\u5e73\u53f0\uff08http:\/\/tools.shenlab-genomics.org\/tools\/SpTransformer<\/em>\uff09\uff0c\u4f7f\u7528\u6237\u80fd\u5229\u7528 SpTransformer \u5feb\u901f\u9884\u6d4b\u7a81\u53d8\u5bf9\u7ec4\u7ec7\u7279\u5f02\u6027\u526a\u63a5\u7684\u5f71\u54cd\u3002<\/p>\n

\u56e2\u961f\u4ecb\u7ecd\u53ca\u62db\u8058<\/strong><\/p>\n

\u6d59\u6c5f\u5927\u5b66\u826f\u6e1a\u5b9e\u9a8c\u5ba4\u6c88\u5b81\u7814\u7a76\u5458\u548c\u5218\u5fd7\u7ea2\u9662\u58eb\u4e3a\u8be5\u8bba\u6587\u7684\u5171\u540c\u901a\u8baf\u4f5c\u8005\uff0c\u4ea4\u53c9\u57f9\u517b\u535a\u58eb\u751f\u6e38\u5b81\u8fdc\u4e3a\u672c\u6587\u7684\u7b2c\u4e00\u4f5c\u8005\u3002\u6d59\u6c5f\u5927\u5b66\u7ba1\u654f\u946b\u7814\u7a76\u5458\u3001\u88f4\u5584\u8d61\u7814\u7a76\u5458\u3001\u5357\u4eac\u5927\u5b66\u848b\u677e\u535a\u58eb\u3001\u65bd\u52b2\u677e\u535a\u58eb\u3001\u590d\u65e6\u5927\u5b66<\/mark>\u5b59\u601d\u7426\u7814\u7a76\u5458\u534f\u52a9\u76d1\u7763\u6307\u5bfc\u4e86\u672c\u9879\u5de5\u4f5c\uff0c\u826f\u6e1a\u5b9e\u9a8c\u5ba4\u591a\u4f4d\u7814\u7a76\u5458\u53ca\u6c88\u5b81\u8bfe\u9898\u7ec4\u591a\u540d\u6210\u5458\u5bf9\u8be5\u5de5\u4f5c\u4f5c\u51fa\u4e86\u91cd\u8981\u8d21\u732e\u3002<\/p>\n

\u826f\u6e1a\u5b9e\u9a8c\u5ba4\u6c88\u5b81\u8bfe\u9898\u7ec4\u56f4\u7ed5\u300c\u7ec4\u5b66\u4e0e\u7cbe\u51c6\u533b\u5b66\u5206\u6790\u7b97\u6cd5\u5f00\u53d1\u4e0e\u5e94\u7528\u300d\u5f00\u5c55\u4e34\u5e8a\u8f6c\u5316\u5bc6\u5207\u76f8\u5173\u7684\u7814\u7a76\uff0c\u8fd0\u7528\u751f\u7269\u4fe1\u606f\u5b66\u6570\u636e\u6574\u5408\u5206\u6790\u4e0e\u4eba\u5de5\u667a\u80fd<\/mark>\u7b97\u6cd5\uff0c\u5e76\u7ed3\u5408\u5b9e\u9a8c\u7b5b\u9009\u5e73\u53f0\u8fdb\u884c\u836f\u7269\u7814\u53d1\u4e0e\u7cbe\u51c6\u6cbb\u7597\u3002<\/p>\n

\u8bfe\u9898\u7ec4\u76ee\u524d\u6709\u591a\u9879\u5177\u6709\u91cd\u8981\u5e94\u7528\u4ef7\u503c\u7684\u8bfe\u9898\u6b63\u5728\u63a8\u8fdb\uff0c\u4e0e\u8457\u540d\u533b\u5b66\u4e13\u5bb6\u4e3b\u5bfc\u7684\u5b9e\u9a8c\u5ba4\u6709\u5408\u4f5c\u5173\u7cfb\uff0c\u8bda\u62db\u5177\u6709\u5b9e\u9a8c\u751f\u7269\u3001\u8ba1\u7b97\u751f\u7269\u80cc\u666f\u7684\u535a\u58eb\u540e\u548c\u7814\u7a76\u52a9\u7406\u3002<\/p>\n

\u8be6\u7ec6\u62db\u8058\u4fe1\u606f\u89c1\uff1ahttps:\/\/person.zju.edu.cn\/shenning<\/em><\/p>\n

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