{"id":70135,"date":"2026-11-14T23:31:34","date_gmt":"2026-11-14T15:31:34","guid":{"rendered":"https:\/\/www.biocloudservice.com\/wordpress\/?p=70135"},"modified":"2026-11-14T23:31:34","modified_gmt":"2026-11-14T15:31:34","slug":"delly-breakpoint-sites-genotypes-normal-library-failure","status":"publish","type":"post","link":"https:\/\/www.biocloudservice.com\/wordpress\/delly-breakpoint-sites-genotypes-normal-library-failure\/","title":{"rendered":"DELLY \u5b9e\u8dd1\uff5c\u4f4d\u70b9\u5199\u7740 PASS\uff0c\u80bf\u7624\u6837\u672c\u5374\u662f 0\/0\uff0c\u8fd9\u6761\u65ad\u70b9\u8be5\u600e\u4e48\u8bfb\uff1f"},"content":{"rendered":"
\n

\u5728\u4f53\u7ec6\u80de\u7ed3\u6784\u53d8\u5f02\u5206\u6790\u4e2d\uff0c\u770b\u5230\u7ed3\u679c\u8868\u91cc\u6709\u4e00\u884c\u901a\u8fc7\u8fc7\u6ee4\uff0c\u5f80\u5f80\u4f1a\u987a\u624b\u628a\u5b83\u8bb0\u6210\u80bf\u7624\u6837\u672c\u7684\u4e00\u6b21\u9633\u6027\u8c03\u7528\u3002\u6211\u4eec\u7ed9 DELLY \u4e00\u4efd\u516c\u5f00\u7684 HCC1954 \u5c40\u90e8\u80bf\u7624\u6bd4\u5bf9\uff0c\u9650\u5b9a\u5bfb\u627e\u8de8\u67d3\u8272\u4f53\u65ad\u7aef\u3002\u7a0b\u5e8f\u627e\u51fa\u4e24\u4e2a\u5019\u9009\uff0c\u5176\u4e2d\u4e00\u4e2a\u4f4d\u70b9\u6807\u4e3a\u901a\u8fc7\uff0c\u6837\u672c\u81ea\u5df1\u7684\u57fa\u56e0\u578b\u5374\u4e3a\u53c2\u8003\u7eaf\u5408\u3002\u6362\u6210\u5b98\u65b9\u793a\u4f8b\u4e2d\u66f4\u5c0f\u7684\u6b63\u5e38\u5bf9\u7167\u7247\u6bb5\uff0c\u7a0b\u5e8f\u751a\u81f3\u5728\u4f30\u8ba1\u6587\u5e93\u53c2\u6570\u65f6\u5c31\u505c\u6b62\u4e86\u3002\u628a\u8fd9\u4e24\u79cd\u60c5\u51b5\u90fd\u4fdd\u7559\u4e0b\u6765\uff0c\u53ef\u4ee5\u89e3\u91ca\u4e3a\u4ec0\u4e48\u4f4d\u70b9\u8fc7\u6ee4\u3001\u6837\u672c\u5206\u578b\u548c\u5bf9\u7167\u5206\u6790\u5206\u522b\u9700\u8981\u81ea\u5df1\u7684\u8bc1\u636e\u3002<\/p>\n

\u5f02\u5e38\u8bfb\u5bf9\u63d0\u4f9b\u4f4d\u7f6e\u7ebf\u7d22\uff0c\u5206\u578b\u53c8\u662f\u53e6\u4e00\u9053\u8ba1\u7b97<\/h2>\n

\u53cc\u7aef\u6d4b\u5e8f\u65f6\uff0c\u6765\u81ea\u540c\u4e00\u7247\u6bb5\u7684\u4e24\u4e2a\u7aef\u4e00\u822c\u6709\u7279\u5b9a\u7684\u65b9\u5411\u548c\u8ddd\u79bb\u5206\u5e03\u3002\u76f8\u90bb\u7684\u4e00\u7ec4\u8bfb\u5bf9\u82e5\u6301\u7eed\u5448\u73b0\u5f02\u5e38\u65b9\u5411\u3001\u8fc7\u5927\u95f4\u8ddd\u6216\u843d\u5230\u4e0d\u540c\u67d3\u8272\u4f53\uff0c\u53ef\u4ee5\u4e3a\u7ed3\u6784\u53d8\u5f02\u63d0\u4f9b\u5019\u9009\u3002\u88c2\u5206\u8bfb\u6bb5\u5219\u80fd\u628a\u540c\u4e00\u4e2a\u7aef\u7684\u4e24\u90e8\u5206\u5206\u522b\u8d34\u5230\u8fde\u63a5\u7684\u4e24\u4fa7\uff0c\u5e2e\u52a9\u8fdb\u4e00\u6b65\u7f29\u5c0f\u65ad\u70b9\u533a\u95f4\u3002DELLY \u628a\u53d1\u73b0\u4e0e\u5bf9\u7ed9\u5b9a\u4f4d\u70b9\u91cd\u65b0\u5206\u578b\u5206\u6210\u53ef\u4ee5\u5355\u72ec\u8fd0\u884c\u7684\u6b65\u9aa4\u3002\u53d1\u73b0\u9636\u6bb5\u4fdd\u5b58\u201c\u8fd9\u91cc\u6709\u4e00\u7ec4\u503c\u5f97\u68c0\u67e5\u7684\u8bc1\u636e\u201d\uff0c\u5206\u578b\u9636\u6bb5\u53e6\u5916\u6bd4\u8f83\u6bcf\u4e2a\u6837\u672c\u91cc\u652f\u6301\u53c2\u8003\u4e0e\u66ff\u4ee3\u7684\u8bc1\u636e\u3002DELLY \u5b98\u65b9\u5de5\u4f5c\u6d41\u7a0b\u4e0e\u56fa\u5b9a\u5019\u9009\u5206\u578b\u7528\u6cd5<\/a><\/p>\n

\u8bfb\u53d6 VCF \u6216 BCF \u65f6\uff0c\u53c2\u8003\u4e0e\u66ff\u4ee3\u3001\u4e24\u4fa7\u8fde\u63a5\u65b9\u5411\u548c\u4f4d\u7f6e\u8303\u56f4\u5c5e\u4e8e\u5177\u4f53\u5019\u9009\u3002\u4f4d\u70b9\u8fc7\u6ee4\u72b6\u6001\u5728\u8bb0\u5f55\u7684\u56fa\u5b9a\u5217\u91cc\u3002\u8bfb\u5230\u6837\u672c\u5217\u540e\uff0c\u624d\u6709\u8be5\u6837\u672c\u7684\u57fa\u56e0\u578b\u3001\u57fa\u56e0\u578b\u8d28\u91cf\u3001\u6837\u672c\u8fc7\u6ee4\u72b6\u6001\u548c\u53c2\u8003\u6216\u66ff\u4ee3\u652f\u6301\u6570\u3002\u4e00\u4e2a\u4f4d\u7f6e\u4e0a\u6709\u4e5d\u5bf9\u5f02\u5e38\u8bfb\u6bb5\uff0c\u8bf4\u660e\u5b58\u5728\u4e5d\u5bf9\u6307\u5411\u5019\u9009\u7684\u8bc1\u636e\u3002\u8981\u5224\u65ad\u8fd9\u4e2a\u4e2a\u4f53\u662f\u5426\u88ab\u5206\u51fa\u66ff\u4ee3\u57fa\u56e0\u578b\uff0c\u8fd8\u5e94\u540c\u65f6\u770b\u6709\u591a\u5c11\u53c2\u8003\u8bfb\u5bf9\u4ee5\u53ca\u7a0b\u5e8f\u91c7\u7528\u7684\u6a21\u578b\u3002\u914d\u5bf9\u80bf\u7624\u9879\u76ee\u5219\u9700\u518d\u52a0\u5165\u6b63\u5e38\u6837\u672c\u7684\u5206\u578b\u4e0e\u76f8\u5e94\u7b5b\u9009\u3002\u5355\u6837\u672c\u4f4d\u70b9\u901a\u8fc7\u4e0e\u4f53\u7ec6\u80de\u72b6\u6001\u4e4b\u95f4\u4e0d\u80fd\u5212\u7b49\u53f7\u3002<\/p>\n

\u5b9e\u8dd1\u7ecf\u9a8c\uff5c\u4e5d\u5bf9\u66ff\u4ee3\u652f\u6301\u4e0e\u56db\u767e\u56db\u5341\u56db\u5bf9\u53c2\u8003\u652f\u6301\u51fa\u73b0\u5728\u540c\u4e00\u884c<\/h2>\n

\u6211\u4eec\u5b89\u88c5 DELLY 1.1.8\uff0c\u4f7f\u7528 Manta \u53d1\u884c\u5305\u9644\u5e26\u7684 HCC1954 \u5c40\u90e8\u6f14\u793a\u6570\u636e\uff0c\u6cbf\u7528\u5176\u53c2\u8003\u548c\u539f\u59cb BAM\u3002\u9996\u5148\u5bf9\u80bf\u7624\u6837\u672c\u5355\u72ec\u53d1\u73b0\u8de8\u67d3\u8272\u4f53\u65ad\u7aef\uff0c\u7136\u540e\u628a\u53d1\u73b0\u7ed3\u679c\u4f5c\u4e3a\u5df2\u77e5\u4f4d\u70b9\uff0c\u4ecd\u5728\u540c\u4e00\u80bf\u7624\u6837\u672c\u4e0a\u91cd\u65b0\u5206\u578b\u3002\u8fd9\u6837\u53ef\u4ee5\u5728\u5904\u7406\u5b8c\u5168\u76f8\u540c\u6570\u636e\u7684\u6761\u4ef6\u4e0b\u5206\u5f00\u68c0\u67e5\u4e24\u6b65\u3002\u7a0b\u5e8f\u4f30\u8ba1\u8bfb\u957f\u4e00\u767e\u96f6\u4e00\uff0c\u914d\u5bf9\u7247\u6bb5\u957f\u5ea6\u4e2d\u4f4d\u6570\u4e09\u767e\u4e09\u5341\u516d\uff0c\u4e2d\u4f4d\u7edd\u5bf9\u504f\u5dee\u5341\u4e8c\u3002\u6b64\u6b21\u5c40\u90e8\u6570\u636e\u4e0d\u4ee3\u8868\u60a3\u8005\u5168\u57fa\u56e0\u7ec4\uff0c\u4e5f\u6ca1\u6709\u72ec\u7acb\u7684\u80bf\u7624\u4e34\u5e8a\u5224\u5b9a\u3002\u672c\u6b21\u6bd4\u5bf9\u6587\u4ef6\u6240\u5728\u7684\u516c\u5f00\u6f14\u793a\u5305<\/a><\/p>\n

\n\n\n\n\n\n\n\n\n
\u80bf\u7624\u5355\u72ec\u53d1\u73b0\u5e76\u91cd\u65b0\u5206\u578b<\/th>\n\u7b2c\u4e00\u6761\u8de8\u67d3\u8272\u4f53\u5019\u9009<\/th>\n\u7b2c\u4e8c\u6761\u8de8\u67d3\u8272\u4f53\u5019\u9009<\/th>\n<\/tr>\n<\/thead>\n
11 \u53f7\u67d3\u8272\u4f53\u8d77\u70b9\uff0f8 \u53f7\u4f19\u4f34\u4f4d\u7f6e<\/td>\n94975643\uff0f107653522<\/td>\n94987785\uff0f107653404<\/td>\n<\/tr>\n
\u4f4d\u70b9\u8fc7\u6ee4\uff0f\u6837\u672c\u8fc7\u6ee4<\/td>\nPASS\uff0fPASS<\/td>\nLowQual\uff0fPASS<\/td>\n<\/tr>\n
\u53c2\u8003\u8bfb\u5bf9 DR\uff0f\u66ff\u4ee3\u8bfb\u5bf9 DV<\/td>\n444\uff0f9<\/td>\n379\uff0f4<\/td>\n<\/tr>\n
\u91cd\u65b0\u5206\u578b\u7684 GT\uff0f\u88c2\u5206\u652f\u6301 RR\u3001RV<\/td>\n0\/0\uff0f0\u30010<\/td>\n0\/0\uff0f0\u30010<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n
\"\u4f4d\u70b9\u901a\u8fc7\uff0c\u6837\u672c\u4e3a\u4f55
HCC1954 \u5c40\u90e8 BAM \u4e2d\u5206\u522b\u6838\u67e5\u53d1\u73b0\u3001\u56fa\u5b9a\u5019\u9009\u5206\u578b\u4e0e\u6b63\u5e38\u7247\u6bb5\u3002<\/figcaption><\/figure>\n

\u4e24\u4e2a\u5019\u9009\u5728\u53d1\u73b0\u4e0e\u91cd\u65b0\u5206\u578b\u7ed3\u679c\u4e2d\u90fd\u53ef\u9010\u9879\u627e\u56de\u3002\u7b2c\u4e00\u6761\u5728\u5341\u4e00\u53f7\u4e0e\u516b\u53f7\u67d3\u8272\u4f53\u4e4b\u95f4\u8bb0\u5f55\u4e00\u4e2a\u8fde\u63a5\uff0c\u504f\u79fb\u7f6e\u4fe1\u533a\u95f4\u524d\u540e\u4e09\u767e\u516b\u5341\u4e8c\u4e2a\u78b1\u57fa\uff0c\u6837\u672c\u5217\u6ca1\u6709\u53c2\u8003\u6216\u66ff\u4ee3\u7684\u88c2\u5206\u8bfb\u6bb5\u8ba1\u6570\u3002\u82e5\u53ea\u5728\u8bfb\u5bf9\u8fd9\u4e00\u7c7b\u8bc1\u636e\u4e2d\u624b\u7b97\uff0c\u4e5d\u9664\u4ee5\u56db\u767e\u56db\u5341\u56db\u52a0\u4e5d\uff0c\u7ea6\u767e\u5206\u4e4b\u4e8c\u3002\u8fd9\u4e2a\u6bd4\u4f8b\u63cf\u8ff0\u7279\u5b9a\u8bc1\u636e\u7c7b\u522b\uff0c\u4e0d\u80fd\u76f4\u63a5\u89e3\u91ca\u4e3a\u80bf\u7624\u7eaf\u5ea6\u3001\u514b\u9686\u6bd4\u4f8b\u6216\u6bcf\u4e2a\u7ec6\u80de\u643a\u5e26\u8be5\u91cd\u6392\u7684\u6982\u7387\u3002\u7b2c\u4e8c\u6761\u5bf9\u5e94\u56db\u5bf9\u66ff\u4ee3\u3001\u4e09\u767e\u4e03\u5341\u4e5d\u5bf9\u53c2\u8003\uff0c\u4f4d\u70b9\u88ab\u6807\u4e3a\u4f4e\u8d28\u91cf\uff0c\u4f46\u6837\u672c\u8fc7\u6ee4\u5b57\u6bb5\u4ecd\u4e3a\u901a\u8fc7\u3002\u8fd9\u518d\u6b21\u8868\u660e\u4e24\u4e2a\u8fc7\u6ee4\u5b57\u6bb5\u7ba1\u7684\u4e0d\u662f\u540c\u4e00\u4ef6\u4e8b\u3002<\/p>\n

\u56fa\u5b9a\u5019\u9009\u91cd\u65b0\u5206\u578b\u7684\u65e5\u5fd7\u91cc\uff0c\u5355\u72ec\u5217\u51fa\u7684\u8f6f\u4ef6\u53d1\u73b0\u7edf\u8ba1\u53ef\u4ee5\u4e0e\u7b2c\u4e00\u6b21\u4e0d\u540c\u3002\u672c\u4f8b\u7b2c\u4e8c\u6b21\u7684\u201c\u72ec\u7279\u5f02\u5e38\u8bfb\u5bf9\u201d\u53d1\u73b0\u7edf\u8ba1\u663e\u793a\u4e3a\u96f6\uff0c\u4f46\u8f93\u51fa\u4e24\u884c\u7684\u6837\u672c\u652f\u6301\u6570\u4ecd\u662f\u4e5d\u548c\u56db\u3002\u82e5\u53ea\u6458\u53d6\u6267\u884c\u65e5\u5fd7\u6700\u540e\u4e00\u4e2a\u8ba1\u6570\uff0c\u5c31\u4f1a\u9519\u62a5\u201c\u91cd\u8dd1\u540e\u5df2\u65e0\u4efb\u4f55\u66ff\u4ee3\u8bc1\u636e\u201d\u3002\u5148\u95ee\u8fd9\u4e00\u884c\u65e5\u5fd7\u6765\u81ea\u53d1\u73b0\u8fd8\u662f\u5206\u578b\uff0c\u518d\u6253\u5f00\u56fa\u5b9a\u5019\u9009\u4e0a\u7684\u6837\u672c\u5b57\u6bb5\uff0c\u6bd4\u5728\u65e5\u5fd7\u91cc\u5bfb\u627e\u4e00\u4e2a\u80fd\u4ee3\u8868\u6574\u4e2a\u9879\u76ee\u7684\u6570\u5b57\u66f4\u53ef\u9760\u3002<\/p>\n

delly call -t BND -g reference.fa -o tumor.bcf tumor.bam\r\ndelly call -t BND -g reference.fa -v tumor.bcf -o checked.bcf tumor.bam\r\nbcftools query -f '%CHROM\\t%POS\\t%FILTER[\\t%GT:%FT:%DR:%DV:%RR:%RV]\\n' checked.bcf\r\n<\/code><\/pre>\n
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