{"id":6690,"date":"2024-03-22T15:01:02","date_gmt":"2024-03-22T07:01:02","guid":{"rendered":""},"modified":"2024-03-22T15:01:02","modified_gmt":"2024-03-22T07:01:02","slug":"\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f","status":"publish","type":"post","link":"https:\/\/mushiming.com\/6690.html","title":{"rendered":"\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f"},"content":{"rendered":"

                                                     \u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f<\/strong>    <\/p>\n

\u6982\u8ff0<\/strong> <\/p>\n

\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u662f\u5bf9\u5df2\u77e5\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u7269\u79cd\u8fdb\u884c\u4e0d\u540c\u4e2a\u4f53\u7684\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff0c\u5e76\u5728\u6b64\u57fa\u7840\u4e0a\u5bf9\u4e2a\u4f53\u6216\u7fa4\u4f53\u8fdb\u884c\u5dee\u5f02\u6027\u5206\u6790\u3002SBC\u5c06\u4e0d\u540c\u68af\u5ea6\u63d2\u5165\u7247\u6bb5\uff08Insert-Size\uff09\u7684\u6d4b\u5e8f\u6587\u5e93\u7ed3\u5408\u77ed\u5e8f\u5217\uff08Short-Reads\uff09\u3001\u53cc\u672b\u7aef\uff08Paired-End\uff09\u8fdb\u884c\u6d4b\u5e8f\uff0c\u5e2e\u52a9\u5ba2\u6237\u5728\u5168\u57fa\u56e0\u7ec4\u6c34\u5e73\u4e0a\u626b\u63cf\u5e76\u68c0\u6d4b\u4e0e\u91cd\u8981\u6027\u72b6\u76f8\u5173\u7684\u57fa\u56e0\u5e8f\u5217\u5dee\u5f02\u548c\u7ed3\u6784\u53d8\u5f02\uff0c\u5b9e\u73b0\u9057\u4f20\u8fdb\u5316\u5206\u6790\u53ca\u91cd\u8981\u6027\u72b6\u5019\u9009\u57fa\u56e0\u9884\u6d4b\u3002<\/p>\n

\u6280\u672f\u8def\u7ebf<\/strong> <\/p>\n

\u63d0\u53d6\u57fa\u56e0\u7ec4DNA\uff0c\u5229\u7528Covaris\u8fdb\u884c\u968f\u673a\u6253\u65ad\uff0c\u7535\u6cf3\u56de\u6536\u6240\u9700\u957f\u5ea6\u7684DNA\u7247\u6bb5\uff080.2~5Kb\uff09\uff0c\u52a0\u4e0a\u63a5\u5934, \u8fdb\u884ccluster\u5236\u5907 \uff08Solexa\uff09\u6216E-PCR \uff08SOLiD\uff09\uff0c\u6700\u540e\u5229\u7528Paired-End\uff08Solexa\uff09\u6216\u8005Mate-Pair\uff08SOLiD\uff09\u7684\u65b9\u6cd5\u5bf9\u63d2\u5165\u7247\u6bb5\u8fdb\u884c\u91cd\u6d4b\u5e8f\u3002\u4e0b\u56fe\u4ee5Solexa\u4e3a\u4f8b\uff0c\u8bf4\u660e\u6574\u4e2a\u5b9e\u9a8c\u65b9\u6848\u3002
\"\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f
\u53cc\u672b\u7aef\uff08Paired-End\uff09\u6d4b\u5e8f\u539f\u7406\uff08from www. Illumina.com\uff09<\/span> <\/p>\n

\u6d4b\u5e8f\u6df1\u5ea6\uff08Sequencing Depth\uff09\uff1a\u6d4b\u5e8f\u5f97\u5230\u7684\u78b1\u57fa\u603b\u91cf\uff08bp\uff09\u4e0e\u57fa\u56e0\u7ec4\u5927\u5c0f\uff08Genome\uff09\u7684\u6bd4\u503c\uff0c\u5b83\u662f\u8bc4\u4ef7\u6d4b\u5e8f\u91cf\u7684\u6307\u6807\u4e4b\u4e00\u3002\u6d4b\u5e8f\u6df1\u5ea6\u4e0e\u57fa\u56e0\u7ec4\u8986\u76d6\u5ea6\u4e4b\u95f4\u662f\u4e00\u4e2a\u6b63\u76f8\u5173\u7684\u5173\u7cfb\uff0c\u6d4b\u5e8f\u5e26\u6765\u7684\u9519\u8bef\u7387\u6216\u5047\u9633\u6027\u7ed3\u679c\u4f1a\u968f\u7740\u6d4b\u5e8f\u6df1\u5ea6\u7684\u63d0\u5347\u800c\u4e0b\u964d\u3002\u91cd\u6d4b\u5e8f\u7684\u4e2a\u4f53\uff0c\u5982\u679c\u91c7\u7528\u7684\u662f\u53cc\u672b\u7aef\u6216Mate-Pair\u65b9\u6848\uff0c\u5f53\u6d4b\u5e8f\u6df1\u5ea6\u572810~15X\u4ee5\u4e0a\u65f6\uff0c\u57fa\u56e0\u7ec4\u8986\u76d6\u5ea6\u548c\u6d4b\u5e8f\u9519\u8bef\u7387\u63a7\u5236\u5747\u5f97\u4ee5\u4fdd\u8bc1\u3002
\"\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f
                         \u6d4b\u5e8f\u6df1\u5ea6\u5bf9\u57fa\u56e0\u7ec4\u8986\u76d6\u5ea6\u548c\u6d4b\u5e8f\u9519\u8bef\u7387\u7684\u5f71\u54cd
                                \uff08HOM\uff1a\u7eaf\u5408\u4f53 HET\uff1a\u6742\u5408\u4f53\uff09<\/span> <\/p>\n

\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u7684\u4e2a\u4f53\uff0c\u901a\u8fc7\u5e8f\u5217\u6bd4\u5bf9\uff0c\u53ef\u4ee5\u627e\u5230\u5927\u91cf\u7684\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff08SNP\uff09\uff0c\u63d2\u5165\u7f3a\u5931\uff08InDel\uff0cInsertion\/Deletion\uff09\u548c\u7ed3\u6784\u53d8\u5f02\uff08SV\uff0cStructure Variation\uff09\u4f4d\u70b9\u3002SBC\u53ef\u4ee5\u534f\u52a9\u5ba2\u6237\uff0c\u901a\u8fc7\u751f\u7269\u4fe1\u606f\u624b\u6bb5\uff0c\u5206\u6790\u4e0d\u540c\u4e2a\u4f53\u57fa\u56e0\u7ec4\u95f4\u7684\u7ed3\u6784\u5dee\u5f02\uff0c \u540c\u65f6\u5b8c\u6210SNP\u53ca\u57fa\u56e0\u7ec4\u7ed3\u6784\u6ce8\u91ca\u3002<\/p>\n

\"\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f
                             \u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u6d41\u7a0b  <\/p>\n

1\uff0e\u6570\u636e\u91cf\u4ea7\u51fa
\u603b\u78b1\u57fa\u6570\u91cf\u3001Total Mapping Reads\u3001Uniquely Mapping Reads\u7edf\u8ba1\uff0c\u6d4b\u5e8f\u6df1\u5ea6\u5206\u6790\u3002<\/p>\n

2\uff0e\u4e00\u81f4\u6027\u5e8f\u5217\u7ec4\u88c5
\u4e0e\u53c2\u8003\u57fa\u56e0\u7ec4\u5e8f\u5217\uff08Reference genome sequence\uff09\u7684\u6bd4\u5bf9\u5206\u6790\uff0c\u5229\u7528\u8d1d\u53f6\u65af\u7edf\u8ba1\u6a21\u578b\u68c0\u6d4b\u51fa\u6bcf\u4e2a\u78b1\u57fa\u4f4d\u70b9\u7684\u6700\u5927\u53ef\u80fd\u6027\u57fa\u56e0\u578b\uff0c\u5e76\u7ec4\u88c5\u51fa\u8be5\u4e2a\u4f53\u57fa\u56e0\u7ec4\u7684\u4e00\u81f4\u5e8f\u5217\u3002<\/p>\n

3\uff0eSNP\u68c0\u6d4b\u53ca\u5728\u57fa\u56e0\u7ec4\u4e2d\u7684\u5206\u5e03
\u63d0\u53d6\u5168\u57fa\u56e0\u7ec4\u4e2d\u6240\u6709\u591a\u6001\u6027\u4f4d\u70b9\uff0c\u7ed3\u5408\u8d28\u91cf\u503c\u3001\u6d4b\u5e8f\u6df1\u5ea6\u3001\u91cd\u590d\u6027\u7b49\u56e0\u7d20\u4f5c\u8fdb\u4e00\u6b65\u7684\u8fc7\u6ee4\u7b5b\u9009\uff0c\u6700\u7ec8\u5f97\u5230\u53ef\u4fe1\u5ea6\u9ad8\u7684SNP\u6570\u636e\u96c6\u3002\u5e76\u6839\u636e\u53c2\u8003\u57fa\u56e0\u7ec4\u4fe1\u606f\u5bf9\u68c0\u6d4b\u5230\u7684\u53d8\u5f02\u8fdb\u884c\u6ce8\u91ca\u3002<\/p>\n

4\uff0eInDel\u68c0\u6d4b\u53ca\u5728\u57fa\u56e0\u7ec4\u7684\u5206\u5e03
\u5728\u8fdb\u884cmapping\u7684\u8fc7\u7a0b\u4e2d\uff0c\u8fdb\u884c\u5bb9gap\u7684\u6bd4\u5bf9\u5e76\u68c0\u6d4b\u53ef\u4fe1\u7684short InDel\u3002\u5728\u68c0\u6d4b\u8fc7\u7a0b\u4e2d\uff0cgap\u7684\u957f\u5ea6\u4e3a1~5\u4e2a\u78b1\u57fa\u3002\u5bf9\u4e8e\u6bcf\u4e2aInDel\u7684\u68c0\u6d4b\uff0c\u81f3\u5c11\u9700\u89813\u4e2aPaired-End\u5e8f\u5217\u7684\u652f\u6301\u3002<\/p>\n

5\uff0eStructure Variation\u68c0\u6d4b\u53ca\u5728\u57fa\u56e0\u7ec4\u4e2d\u7684\u5206\u5e03
\u76ee\u524dSBC\u80fd\u591f\u68c0\u6d4b\u5230\u7684\u7ed3\u6784\u53d8\u5f02\u7c7b\u578b\u4e3b\u8981\u6709\uff1a\u63d2\u5165\u3001\u7f3a\u5931\u3001\u590d\u5236\u3001\u5012\u4f4d\u3001\u6613\u4f4d\u7b49\u3002\u6839\u636e\u6d4b\u5e8f\u4e2a\u4f53\u5e8f\u5217\u4e0e\u53c2\u8003\u57fa\u56e0\u7ec4\u5e8f\u5217\u6bd4\u5bf9\u5206\u6790\u7ed3\u679c\uff0c\u68c0\u6d4b\u5168\u57fa\u56e0\u7ec4\u6c34\u5e73\u7684\u7ed3\u6784\u53d8\u5f02\u5e76\u5bf9\u68c0\u6d4b\u5230\u7684\u53d8\u5f02\u8fdb\u884c\u6ce8\u91ca\u3002<\/p>\n

<\/strong> <\/span> <\/p>\n

\u5168\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u6848\u4f8b\u7814\u7a76 <\/strong>     <\/p>\n

DNA\u7a81\u53d8\u53ef\u8bf1\u53d1\u764c\u75c7\u3002\u5438\u70df\u8fc7\u7a0b\u4e2d\u6240\u91ca\u653e\u7684>60\u79cd\u81f4\u764c\u5316\u5b66\u7269\u8d28\u53ef\u4e0eDNA\u7ed3\u5408\u5e76\u5bf9DNA\u94fe\u4e0a\u7684\u9e1f\u560c\u5464\u548c\u817a\u560c\u5464\u8fdb\u884c\u5316\u5b66\u4fee\u9970\u4ece\u800c\u4ea7\u751f\u5927\u7684\u52a0\u5408\u7269\uff0c\u8be5\u52a0\u5408\u7269\u6539\u53d8\u4e86DNA\u53cc\u87ba\u65cb\u7684\u7ed3\u6784\uff0c\u5982\u679c\u4e0d\u88ab\u6838\u82f7\u9178\u526a\u5207\u4fee\u590d\u6216\u5176\u4ed6\u7684\u9014\u5f84\u8fdb\u884c\u7ea0\u6b63\uff0c\u90a3\u4e48DNA\u5728\u590d\u5236\u65f6\u5c31\u4f1a\u6309\u7167non-Watson-Crick\u65b9\u5f0f\u8fdb\u884c\u590d\u5236\u5e76\u963b\u6b62RNA\u805a\u5408\u9176\u8fdb\u884c\u8f6c\u5f55\uff0c\u4ece\u800c\u5f15\u53d1\u764c\u75c7\u3002Erin D. Pleasance\u7b49[5]\u8fd1\u65e5\u5728Nature\u6742\u5fd7\u4e0a\u53d1\u8868\u6587\u7ae0\uff0c\u4ed6\u4eec\u7528\u7b2c\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\uff08AB SOLiD\uff09\u5bf9\u4e00\u4e2a\u5c0f\u7ec6\u80de\u80ba\u764c\uff08Small-cell lung cancer, SCLC\uff09\u7ec6\u80de\u7cfbNCI-H209\u57fa\u56e0\u7ec4\u8fdb\u884c\u6d4b\u5e8f\uff0c\u4ee5\u63a2\u8ba8\u70df\u6c14\u4e2d\u7684\u81f4\u764c\u7269\u8d28\u5f15\u53d1\u4e86\u8be5\u7ec6\u80de\u7cfb\u57fa\u56e0\u7ec4\u4e2d\u54ea\u4e9b\u7279\u5b9a\u78b1\u57fa\u53ca\u5176\u5468\u56f4\u5e8f\u5217\u7684\u7a81\u53d8\u53ca\u7ec6\u80de\u635f\u4f24\u4fee\u590d\u8def\u5f84\u3002<\/p>\n

\u6d4b\u5e8f\u57fa\u672c\u6570\u636e\uff1a\u6d4b\u5e8f\u7247\u6bb5\u957f\u5ea6\u4e3a25bp\uff1bMate-Pair\u6d4b\u5e8f\uff1b\u4ea7\u751f\u7684\u6570\u636e\u91cf\uff1a112Gb\u300139\u00d7\u8986\u76d6\u5ea6\uff08NCI-H209\u7ec6\u80de\u7cfb\uff09\uff0c90Gb\u300131\u00d7\u8986\u76d6\u5ea6\uff08\u6b63\u5e38\u7ec6\u80de\u7cfb\uff0creference genome\uff09\u3002<\/p>\n

\u7814\u7a76\u7ed3\u679c\u5982\u4e0b\uff1a<\/p>\n

\u2460NCI-H209\u7ec6\u80de\u7cfb\u57fa\u56e0\u7ec4\u4e2d\uff0c\u5171\u68c0\u6d4b\u523022,910\u4e2a\u78b1\u57fa\u66ff\u6362\u300165\u4e2a\u63d2\u5165\u7f3a\u5931\uff08Indels\uff09\u300158\u4e2a\u7ed3\u6784\u53d8\u5f02\uff1b\u5728\u57fa\u56e0\u7ec4\u7684\u7f16\u7801\u533a\uff0c\u9664\u4e86\u53d1\u73b0RB1 \u548cTP53\u57fa\u56e0\u53d1\u751f\u70b9\u7a81\u53d8\u548cMLL2\u57fa\u56e0\u7531\u4e8e\u53d1\u751f\u4e86G\uff1eT\u7684\u98a0\u6362\uff0c\u4ece\u800c\u4ea7\u751f\u4e86pre-stop codon\u5916\uff0c\u670994\u4e2a\u70b9\u7a81\u53d8\u76f4\u63a5\u6539\u53d8\u4e86\u6c28\u57fa\u9178\u5e8f\u5217\uff0c\u670936\u4e2a\u5c5e\u540c\u4e49\u7a81\u53d8\u3002<\/p>\n

\u2461\u7279\u5b9a\u7684\u78b1\u57fa\u53ca\u5176\u5468\u56f4\u5e8f\u5217\u6613\u88ab\u70df\u6c14\u4e2d\u7684\u591a\u73af\u82b3\u70c3\u548c\u4e19\u70ef\u919b\u8bf1\u53d8\u3002\u5728NCI-H209\u7ec6\u80de\u7cfb\u57fa\u56e0\u7ec4\u4e2d\uff0cG\uff1eT\/C\uff1eA\u662f\u6700\u4e3a\u666e\u904d\u7684\u98a0\u6362\u73b0\u8c61\uff0c\u53d1\u751f\u9891\u7387\u4e3a34%\uff1b\u5176\u6b21\u662fG\uff1eA\/C\uff1eT\uff0821%\uff09\u548cA\uff1eG\/T\uff1eC\uff0819%\uff09\uff1bCpG\u5c9b\u5916\u7684CpG\u4e8c\u6838\u82f7\u9178\u591a\u53d1\u751fG\uff1eT\u98a0\u6362\uff0c\u800cCpG\u5c9b\u5185\u7684CpG\u4e8c\u6838\u82f7\u9178\u591a\u53d1\u751fG\uff1eC\u98a0\u6362\uff0c\u8bf4\u660e\u70df\u6c14\u4e2d\u7684\u81f4\u764c\u7269\u504f\u597d\u5f15\u8d77\u7532\u57fa\u5316\u7684CpG\u4e8c\u6838\u82f7\u9178\u53d1\u751f\u98a0\u6362\uff08\u56fe1-5\uff09\u3002<\/p>\n

\u2462\u68c0\u6d4b\u5230\u8f6c\u5f55\u5076\u8054\u4fee\u590d\uff08Transcription-coupled repair\uff09\u548c\u8868\u8fbe\u76f8\u5173\u7684\u4fee\u590d\uff08Expression-linked repair\uff09\u5728\u8d77\u4f5c\u7528\u3002<\/p>\n

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