{"id":70250,"date":"2026-11-14T23:40:47","date_gmt":"2026-11-14T15:40:47","guid":{"rendered":"https:\/\/www.biocloudservice.com\/wordpress\/?p=70250"},"modified":"2026-11-14T23:40:47","modified_gmt":"2026-11-14T15:40:47","slug":"dragen-dragmap-reference-mask-split-read-boundary","status":"publish","type":"post","link":"https:\/\/www.biocloudservice.com\/wordpress\/dragen-dragmap-reference-mask-split-read-boundary\/","title":{"rendered":"DRAGEN \u6bd4\u5bf9\u5b9e\u64cd\uff5c\u53c2\u8003 FASTA \u6ca1\u53d8\uff0c\u4e3a\u4ec0\u4e48\u4e00\u6761\u8fde\u7eed\u8bfb\u6bb5\u88ab\u62c6\u6210\u4e24\u6761\u6bd4\u5bf9\uff1f"},"content":{"rendered":"
\n

\u4e24\u6b21\u5206\u6790\u7684\u53c2\u8003 FASTA \u6821\u9a8c\u503c\u5b8c\u5168\u76f8\u540c\uff0c\u5c31\u80fd\u8ba4\u4e3a\u6bd4\u5bf9\u53c2\u8003\u4e00\u81f4\u5417\uff1f\u82e5\u5efa\u7d22\u5f15\u65f6\u52a0\u5165\u4e86\u5c4f\u853d\u533a\u95f4\uff0c\u4e24\u6b21\u53ef\u7528\u4e8e\u5b9a\u4f4d\u7684\u5e8f\u5217\u4ecd\u53ef\u80fd\u4e0d\u540c\u3002\u6211\u4eec\u7528 Illumina \u53d1\u5e03\u7684 DRAGEN \u5f00\u6e90\u6bd4\u5bf9\u5668 DRAGMAP \u5b9e\u9645\u5efa\u4e86\u4e24\u5957\u54c8\u5e0c\u7d22\u5f15\u3002\u7ed9\u5b83\u540c\u4e00\u4efd FASTQ\uff0c\u4e00\u6761\u539f\u672c\u8fde\u7eed\u543b\u5408\u4e00\u767e\u4e94\u5341\u4e2a\u78b1\u57fa\u7684\u8bfb\u6bb5\u5728\u7b2c\u4e8c\u5957\u7d22\u5f15\u4e2d\u53d8\u6210\u4e3b\u8bb0\u5f55\u52a0\u8865\u5145\u8bb0\u5f55\uff0c\u5206\u522b\u843d\u5728\u4e24\u6761\u5e8f\u5217\u4e0a\u3002\u539f\u59cb\u5206\u5b50\u6309\u6784\u9020\u4ece\u5934\u5230\u5c3e\u90fd\u53d6\u81ea\u540c\u4e00\u6761\u53c2\u8003\u3002\u8fd9\u4e2a\u4f8b\u5b50\u53ef\u4ee5\u7528\u6765\u68c0\u67e5\u7531\u7d22\u5f15\u63a9\u819c\u5f15\u8d77\u7684\u5047\u8c61\uff0c\u4e5f\u9002\u5408\u7528\u6765\u8bfb\u61c2\u8de8\u8fb9\u754c\u7684\u64cd\u4f5c\u4e32\u3002<\/p>\n

\u4ec0\u4e48\u88ab\u5c4f\u853d\uff0c\u7531\u5efa\u7d22\u5f15\u65f6\u7684\u8f93\u5165\u51b3\u5b9a<\/h2>\n

DRAGEN \u63d0\u4f9b\u591a\u79cd\u4e8c\u7ea7\u5206\u6790\u6d41\u7a0b\uff0c\u672c\u6587\u5b9e\u9645\u4f7f\u7528\u7684\u662f\u5382\u5546\u5f00\u653e\u7684 CPU \u6bd4\u5bf9\u7ec4\u4ef6 DRAGMAP 1.3.0\u3002\u5b9e\u9a8c\u6267\u884c\u4e86\u53c2\u8003\u54c8\u5e0c\u6784\u5efa\u548c\u5355\u7aef\u6bd4\u5bf9\uff0c\u6ca1\u6709\u8fd0\u884c\u5546\u7528\u5e73\u53f0\u7684\u5176\u4ed6\u6a21\u5757\u3002\u8be5\u7ec4\u4ef6\u652f\u6301\u7528 BED \u6587\u4ef6\u6307\u5b9a\u6784\u5efa\u65f6\u7684\u5c4f\u853d\u533a\u95f4\uff0c\u56e0\u6b64\u53c2\u8003\u4ea4\u4ed8\u8d44\u6599\u9664 FASTA \u4e4b\u5916\uff0c\u8fd8\u9700\u8981\u4fdd\u7559\u7d22\u5f15\u6784\u5efa\u547d\u4ee4\u3001\u533a\u95f4\u6587\u4ef6\u548c\u5de5\u5177\u7248\u672c\u3002\u82e5\u4e00\u4e2a\u6d41\u7a0b\u4ea4\u4ed8\u539f\u59cb FASTA\uff0c\u53e6\u4e00\u4e2a\u53ea\u4ea4\u4ed8\u7f16\u597d\u7684\u7d22\u5f15\uff0c\u4ec5\u51ed\u6587\u4ef6\u5939\u540d\u5f88\u96be\u8ffd\u67e5\u662f\u5426\u4f7f\u7528\u8fc7\u4e0d\u540c\u7684\u5c4f\u853d\u89c4\u5219\u3002Illumina \u5bf9 DRAGMAP \u7684\u8bf4\u660e\u4e0e\u5efa\u7d22\u5f15\u793a\u4f8b<\/a><\/p>\n

\u6211\u4eec\u6784\u9020\u4e24\u6761\u5404\u957f\u4e00\u4e07\u78b1\u57fa\u7684\u4eba\u5de5\u53c2\u8003\uff0c\u53eb\u4f5c A \u548c B\u3002\u4e24\u8005\u4ece\u96f6\u57fa\u7b2c\u56db\u5343\u81f3\u7b2c\u56db\u5343\u516d\u767e\u8fd9\u4e00\u6bb5\u5b8c\u5168\u76f8\u540c\uff0c\u5176\u4f59\u5e8f\u5217\u72ec\u7acb\u751f\u6210\u3002\u56db\u6761\u8bfb\u6bb5\u5404\u957f\u4e00\u767e\u4e94\u5341\u78b1\u57fa\uff0c\u4e00\u6761\u5b8c\u5168\u5728\u5171\u4eab\u533a\u5185\uff0c\u4e24\u6761\u5206\u522b\u4ece A \u548c B \u7684\u5de6\u8fb9\u754c\u8de8\u5165\u5171\u4eab\u533a\uff0c\u6700\u540e\u4e00\u6761\u53d6\u81ea B \u7684\u8fdc\u7aef\u72ec\u6709\u533a\u57df\u3002\u7b2c\u4e8c\u5957\u7d22\u5f15\u53ea\u5728 B \u4e0a\u5c4f\u853d\u8fd9\u4e2a\u516d\u767e\u78b1\u57fa\u7684\u533a\u95f4\u3002BED \u7528\u96f6\u57fa\u4e14\u53f3\u7aef\u4e0d\u5305\u542b\uff0c\u5199\u6210\u56db\u5343\u3001\u56db\u5343\u516d\u767e\uff0c\u5bf9\u5e94 SAM \u4e00\u57fa\u5750\u6807\u7b2c\u56db\u5343\u96f6\u4e00\u5230\u7b2c\u56db\u5343\u516d\u767e\u3002\u51c6\u5907\u6d4b\u8bd5\u65f6\u82e5\u5e73\u79fb\u4e00\u4e2a\u78b1\u57fa\uff0c\u4e4b\u540e\u6838\u67e5\u8fb9\u754c\u526a\u5207\u4f1a\u66f4\u96be\u5bf9\u8d26\u3002<\/p>\n

\u5b9e\u8dd1\u7ecf\u9a8c\uff5c\u6700\u80fd\u8bc6\u7834\u63a9\u819c\u5f71\u54cd\u7684\u662f\u8de8\u8d8a\u8fb9\u754c\u7684\u5bf9\u7167<\/h2>\n

\u4e24\u4efd\u7d22\u5f15\u90fd\u7528\u540c\u4e00\u6587\u4ef6\u6784\u5efa\uff0c\u56fa\u5b9a\u7ebf\u7a0b\u6570\u3001\u8bfb\u6bb5\u548c\u8d28\u91cf\u5b57\u7b26\u4e32\u3002\u7b2c\u4e00\u5957\u65e0\u63a9\u819c\uff0c\u5b8c\u5168\u5904\u5728\u5171\u4eab\u533a\u7684\u8bfb\u6bb5\u5728 B \u4e0a\u5168\u957f\u5339\u914d\uff0c\u5b9a\u4f4d\u8d28\u91cf\u4e3a\u96f6\uff0c\u6700\u4f73\u548c\u6b21\u4f18\u5f97\u5206\u90fd\u4e3a\u4e00\u767e\u4e94\u5341\u3002\u52a0\u4e0a B \u7684\u63a9\u819c\u540e\uff0c\u8fd9\u6761\u8bfb\u6bb5\u6539\u5728 A \u4e0a\u5168\u957f\u5339\u914d\uff0c\u5f97\u5206\u4ecd\u4e3a\u4e00\u767e\u4e94\u5341\uff0c\u5b9a\u4f4d\u8d28\u91cf\u53d8\u6210\u516d\u5341\u3002\u8fd9\u91cc\u4e0d\u7ba1\u4e3b\u8981\u843d\u70b9\u88ab\u9009\u5728 A \u8fd8\u662f B\uff0c\u5e8f\u5217\u672c\u8eab\u90fd\u65e0\u6cd5\u533a\u5206\u4e24\u4efd\u62f7\u8d1d\u3002\u56db\u6761\u8bfb\u6bb5\u4e00\u8d77\u8bfb\uff0c\u80fd\u533a\u5206\u8fd9\u7c7b\u91cd\u590d\u5b9a\u4f4d\u53d8\u5316\u4e0e\u6574\u6761\u67d3\u8272\u4f53\u7f3a\u5931\u3002DRAGEN \u5e73\u53f0\u8986\u76d6\u7684\u5206\u6790\u8303\u56f4<\/a><\/p>\n

\n\n\n\n\n\n\n\n\n
\u6765\u81ea\u54ea\u6761\u5e8f\u5217<\/th>\n\u65e0\u63a9\u819c<\/th>\n\u53ea\u5c4f\u853d B \u7684\u5171\u4eab\u533a<\/th>\n<\/tr>\n<\/thead>\n
\u5171\u4eab\u533a\u5185<\/td>\nB \u5168\u957f\uff0cMAPQ 0<\/td>\nA \u5168\u957f\uff0cMAPQ 60<\/td>\n<\/tr>\n
\u8de8 A \u5de6\u8fb9\u754c<\/td>\nA\uff0c150M<\/td>\nA\uff0c150M<\/td>\n<\/tr>\n
\u8de8 B \u5de6\u8fb9\u754c<\/td>\nB\uff0c150M<\/td>\nB \u4e3b\u8bb0\u5f55 80M70S\uff0cA \u8865\u5145\u8bb0\u5f55 79H71M<\/td>\n<\/tr>\n
B \u7684\u8fdc\u7aef\u72ec\u6709\u533a<\/td>\nB\uff0c150M<\/td>\nB\uff0c150M<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n
\"\u540c\u4e00\u6761\u8fde\u7eed\u8bfb\u6bb5\u4e3a\u4f55\u5206\u6210\u4e24\u6bb5\u3002\u540c\u4e00\u4efd
\u540c\u4e00\u4efd FASTA \u5efa\u4e24\u6b21\u7d22\u5f15\uff0c\u53ea\u5728 B \u62f7\u8d1d\u5c4f\u853d\u4e00\u6bb5\u5171\u4eab\u5e8f\u5217\u3002<\/figcaption><\/figure>\n

\u8de8 B \u8fb9\u754c\u7684\u5bf9\u7167\u6700\u80fd\u8bf4\u660e\u95ee\u9898\u3002\u672a\u5c4f\u853d\u65f6\uff0cB \u7684\u7b2c\u4e09\u5343\u4e5d\u767e\u4e8c\u5341\u4e00\u4f4d\u5f00\u59cb\uff0c\u8bfb\u6bb5\u4e00\u767e\u4e94\u5341\u4e2a\u78b1\u57fa\u5168\u90e8\u5bf9\u9f50\uff0c\u7f16\u8f91\u8ddd\u79bb\u4e3a\u96f6\u3002\u5c4f\u853d\u4e4b\u540e\uff0c\u4e3b\u8bb0\u5f55\u4ecd\u4ece\u8fd9\u91cc\u5f00\u59cb\uff0c\u539f\u6765\u5728\u5c4f\u853d\u533a\u5de6\u4fa7\u7684\u516b\u5341\u4e2a\u78b1\u57fa\u5bf9\u9f50\uff0c\u540e\u4e03\u5341\u4e2a\u8f6f\u526a\u5207\u3002\u53e6\u6709\u4e00\u6761\u6807\u4e3a\u8865\u5145\u7684\u8bb0\u5f55\u51fa\u73b0\u5728 A \u4e0a\uff0c\u64cd\u4f5c\u4e32\u663e\u793a\u786c\u526a\u53bb\u4e03\u5341\u4e5d\u4e2a\u78b1\u57fa\u3001\u4f59\u4e0b\u4e03\u5341\u4e00\u4e2a\u5339\u914d\u3002\u4e24\u6bb5\u8868\u9762\u4e0a\u957f\u516b\u5341\u52a0\u4e03\u5341\u4e00\uff0c\u5df2\u7ecf\u8d85\u8fc7\u6574\u6761\u8bfb\u6bb5\u957f\u5ea6\u4e00\u3002\u68c0\u67e5\u8f93\u5165\u5e8f\u5217\u53ef\u4ee5\u53d1\u73b0\u6709\u4e00\u4f4d\u80fd\u5728\u4e24\u4fa7\u540c\u65f6\u5bf9\u4e0a\uff0c\u56e0\u6b64\u4e0d\u80fd\u628a\u4e24\u6761\u8bb0\u5f55\u4e0a\u6240\u6709\u5339\u914d\u957f\u5ea6\u76f8\u52a0\u5f53\u4f5c\u72ec\u7acb\u8986\u76d6\u3002<\/p>\n

\u4e24\u6761\u8bb0\u5f55\u7684\u6807\u5fd7\u548c\u64cd\u4f5c\u4e32\u8fd8\u5f71\u54cd\u53ef\u89c1\u5e8f\u5217\u3002\u8f6f\u526a\u5207\u90e8\u5206\u4ecd\u80fd\u5728\u90a3\u6761\u4e3b\u8bb0\u5f55\u7684\u5e8f\u5217\u5b57\u6bb5\u4e2d\u627e\u5230\uff0c\u786c\u526a\u5207\u90e8\u5206\u5219\u4e0d\u968f\u8865\u5145\u8bb0\u5f55\u4fdd\u5b58\u3002\u82e5\u811a\u672c\u6309\u6587\u4ef6\u987a\u5e8f\u62ff\u5230\u7b2c\u4e00\u6761\u5c31\u5f53\u4f5c\u4e3b\u8bb0\u5f55\uff0c\u672c\u6b21\u6070\u597d\u4f1a\u62ff\u5230\u6807\u5fd7\u4e3a\u4e8c\u5343\u96f6\u56db\u5341\u516b\u7684\u8865\u5145\u8bb0\u5f55\u3002\u5e94\u540c\u65f6\u68c0\u67e5\u6b21\u8981\u548c\u8865\u5145\u6807\u5fd7\uff0c\u518d\u4f9d\u8bfb\u6bb5\u540d\u5173\u8054\u5230\u5b8c\u6574\u5e8f\u5217\u3002\u53e6\u4e00\u6761\u6765\u81ea B \u72ec\u6709\u533a\u7684\u8bfb\u6bb5\u4e24\u6b21\u90fd\u543b\u5408\u5230\u540c\u4e00\u4e2a\u4f4d\u7f6e\uff0c\u8bf4\u660e\u8fd9\u6b21\u5c4f\u853d\u53ea\u4f5c\u7528\u4e8e\u6307\u5b9a\u8303\u56f4\uff0c\u4e0d\u80fd\u89e3\u91ca\u6210 B \u6574\u6761\u88ab\u4ece\u53c2\u8003\u91cc\u5220\u9664\u3002SAM \u89c4\u8303\u5bf9\u8865\u5145\u8bb0\u5f55\u4e0e\u8f6f\u786c\u526a\u5207\u7684\u5b9a\u4e49<\/a><\/p>\n

mkdir -p full masked\r\ndragen-os --build-hash-table true --ht-reference ref.fa --output-directory full\r\ndragen-os --build-hash-table true --ht-reference ref.fa --ht-mask-bed mask.bed --output-directory masked\r\ndragen-os -r full -1 reads.fq > full.sam\r\ndragen-os -r masked -1 reads.fq > masked.sam\r\n<\/code><\/pre>\n
\u6bd4\u8f83\u4e24\u6b21\u8f93\u51fa\u65f6\u8fd8\u53ef\u628a\u8de8 A \u7684\u59ca\u59b9\u5bf9\u7167\u653e\u5728\u65c1\u8fb9\u3002\u5b83\u7684\u4e3b\u6bd4\u5bf9\u4e24\u6b21\u90fd\u4fdd\u6301\u4e00\u767e\u4e94\u5341\u4e2a\u78b1\u57fa\u5168\u957f\u3001\u5b9a\u4f4d\u8d28\u91cf\u516d\u5341\uff0c\u65e0\u63a9\u819c\u65f6\u53e6\u62a5\u4e00\u4e2a\u4e03\u5341\u4e00\u7684\u6b21\u4f18\u5f97\u5206\uff0c\u5c4f\u853d\u540e\u8fd9\u4e2a\u6b21\u4f18\u5b57\u6bb5\u672a\u51fa\u73b0\u3002\u7531\u6b64\u53ef\u89c1\uff0c\u4e3b\u5750\u6807\u6ca1\u6709\u79fb\u52a8\uff0c\u4e5f\u53ef\u80fd\u53d1\u751f\u5019\u9009\u7ade\u4e89\u73af\u5883\u7684\u53d8\u5316\u3002\u82e5\u53ea\u627e\u5750\u6807\u53d1\u751f\u53d8\u5316\u7684\u8bfb\u6bb5\uff0c\u4f1a\u9519\u8fc7\u8fd9\u4e00\u5c42\u8bc1\u636e\u3002<\/p>\n
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