{"id":70107,"date":"2026-11-14T23:10:50","date_gmt":"2026-11-14T15:10:50","guid":{"rendered":"https:\/\/www.biocloudservice.com\/wordpress\/?p=70107"},"modified":"2026-11-14T23:10:50","modified_gmt":"2026-11-14T15:10:50","slug":"glnexus-aldh2-four-twelve-sample-joint-genotyping","status":"publish","type":"post","link":"https:\/\/www.biocloudservice.com\/wordpress\/glnexus-aldh2-four-twelve-sample-joint-genotyping\/","title":{"rendered":"GLnexus \u5b9e\u8dd1\uff5c\u961f\u5217\u4ece 4 \u4eba\u6269\u5230 12 \u4eba\uff0c\u4e3a\u4ec0\u4e48\u65e7\u53d8\u5f02\u8868\u4e5f\u5bf9\u4e0d\u4e0a\u4e86\uff1f"},"content":{"rendered":"
\n

\u540c\u4e00\u4e2a\u4eba\u7684\u8bfb\u6bb5\u548c\u5355\u6837\u672c gVCF \u90fd\u6ca1\u6539\uff0c\u961f\u5217\u591a\u52a0\u4e86\u516b\u4e2a\u4eba\uff0c\u91cd\u505a\u8054\u5408\u5206\u578b\u5374\u53d1\u73b0\u65e7\u8868\u91cc\u6709\u4e24\u6761\u8bb0\u5f55\u5728\u65b0\u8868\u91cc\u5339\u914d\u4e0d\u4e0a\u3002\u8fd9\u662f\u539f\u6765\u7684\u53d8\u5f02\u6d88\u5931\u4e86\u5417\uff1f\u6211\u4eec\u7528 GLnexus \u5b98\u65b9\u6559\u7a0b\u4e2d\u7684\u5343\u4eba\u57fa\u56e0\u7ec4\u8ba1\u5212\u516c\u5f00\u6837\u4f8b\uff0c\u5728 ALDH2 \u9644\u8fd1\u53d6\u4e24\u4e2a\u5d4c\u5957\u7684\u5c0f\u961f\u5217\u3002\u56db\u4eba\u7684\u7ed3\u679c\u6709\u516d\u5341\u516b\u6761\uff0c\u5341\u4e8c\u4eba\u7684\u6709\u4e03\u5341\u4e03\u6761\uff0c\u5b8c\u5168\u5339\u914d\u7684\u8bb0\u5f55\u53ea\u6709\u516d\u5341\u516d\u6761\u3002\u627e\u5230\u90a3\u4e24\u6761\u65e7\u8bb0\u5f55\u7684\u57fa\u56e0\u7ec4\u4f4d\u7f6e\uff0c\u518d\u6253\u5f00\u539f\u59cb\u6837\u672c\u7684\u53c2\u8003\u5757\uff0c\u5c31\u80fd\u770b\u6e05\u6709\u4e9b\u5dee\u5f02\u6765\u81ea\u65b0\u589e\u643a\u5e26\u8005\uff0c\u53e6\u4e00\u4e9b\u6765\u81ea\u540c\u4e00\u4f4d\u7f6e\u6539\u7528\u4e86\u53e6\u4e00\u79cd\u5199\u6cd5\u3002GLnexus \u5b98\u65b9\u5165\u95e8\u4e0e\u516c\u5171\u6570\u636e\u6765\u6e90<\/a><\/p>\n

\u4e3a\u4ec0\u4e48\u8981\u7528\u5404\u6837\u672c\u7684 gVCF \u505a\u8054\u5408\u5206\u578b<\/h2>\n

\u666e\u901a\u7684\u5355\u6837\u672c\u53d8\u5f02\u8868\u5f80\u5f80\u53ea\u5217\u51fa\u88ab\u53d1\u73b0\u7684\u53d8\u5f02\u3002\u4e00\u4e2a\u6837\u672c\u67d0\u5904\u5c11\u4e00\u884c\uff0c\u53ef\u80fd\u56e0\u4e3a\u53c2\u8003\u8bc1\u636e\u5145\u5206\uff0c\u4e5f\u53ef\u80fd\u56e0\u4e3a\u8986\u76d6\u4e0d\u8db3\u3002\u6837\u672c\u7ea7 gVCF \u989d\u5916\u4fdd\u7559\u53c2\u8003\u7f6e\u4fe1\u533a\u95f4\u7b49\u4fe1\u606f\u3002\u8054\u5408\u5206\u578b\u65f6\uff0c\u7a0b\u5e8f\u5148\u4ece\u6837\u672c\u4e2d\u6536\u96c6\u5019\u9009\uff0c\u51b3\u5b9a\u600e\u6837\u5728\u961f\u5217\u5c42\u9762\u8868\u793a\u7b49\u4f4d\uff0c\u518d\u5bf9\u6bcf\u4e2a\u6837\u672c\u5728\u76f8\u5e94\u4f4d\u7f6e\u586b\u5165\u53ef\u652f\u6301\u7684\u57fa\u56e0\u578b\u3002\u540c\u4e00\u4e2a\u4f4d\u7f6e\u6709\u591a\u4e2a\u4e0d\u540c\u957f\u5ea6\u7684\u66ff\u4ee3\u5e8f\u5217\u65f6\uff0c\u8f93\u51fa\u9700\u8981\u4e00\u4e2a\u8db3\u4ee5\u5171\u540c\u8868\u793a\u8fd9\u4e9b\u7b49\u4f4d\u7684\u53c2\u8003\u5b57\u7b26\u4e32\u3002\u56e0\u6b64\uff0c\u589e\u52a0\u6837\u672c\u4e0d\u4e00\u5b9a\u53ea\u662f\u5728\u65e7\u8868\u540e\u9762\u52a0\u51e0\u5217\u3002GLnexus \u9879\u76ee\u4e0e\u8054\u5408\u8c03\u7528\u6d41\u7a0b<\/a><\/p>\n

\u672c\u6b21\u8d44\u6599\u5305\u5305\u542b\u4e8c\u5343\u4e94\u767e\u96f6\u56db\u4e2a\u5386\u53f2 DeepVariant 0.8.0 \u751f\u6210\u7684\u5c40\u90e8 gVCF\u3002\u4e3a\u4e86\u9010\u884c\u8ffd\u67e5\uff0c\u6211\u4eec\u6309\u6837\u672c\u6587\u4ef6\u540d\u5b57\u5178\u5e8f\u5148\u53d6\u524d\u56db\u4e2a\uff0c\u518d\u53d6\u524d\u5341\u4e8c\u4e2a\uff0c\u540e\u8005\u5305\u542b\u524d\u8005\u7684\u5168\u90e8\u6210\u5458\u3002\u8fd0\u884c GLnexus 1.4.1\uff0c\u4e24\u6b21\u5747\u4f7f\u7528\u540c\u4e00\u5957\u5168\u57fa\u56e0\u7ec4 DeepVariant \u9884\u8bbe\u3001\u76f8\u540c\u7684\u5341\u4e8c\u53f7\u67d3\u8272\u4f53\u533a\u95f4\u548c\u76f8\u540c\u7ebf\u7a0b\u6570\uff0c\u5404\u5efa\u4e00\u4e2a\u4e34\u65f6\u6570\u636e\u5e93\u3002\u6837\u672c\u9009\u62e9\u662f\u53ef\u590d\u73b0\u7684\u6559\u5b66\u62bd\u53d6\uff0c\u4e0d\u9002\u5408\u62ff\u6765\u4f30\u7b97\u603b\u4f53\u9891\u7387\u3002\u4e0d\u540c\u8c03\u7528\u5668\u6216\u6d4b\u5e8f\u8bbe\u8ba1\u6709\u81ea\u5df1\u7684\u5206\u578b\u914d\u7f6e\uff0c\u590d\u7528\u5386\u53f2\u961f\u5217\u65f6\u8981\u8bb0\u5f55\u8f93\u5165\u6765\u6e90\u548c\u6240\u7528\u9884\u8bbe\u3002GLnexus \u4f5c\u8005\u7684\u914d\u7f6e\u8bf4\u660e<\/a><\/p>\n

\u5b9e\u8dd1\u7ecf\u9a8c\uff5c\u516d\u5341\u516b\u548c\u4e03\u5341\u4e03\u4e4b\u95f4\u4e0d\u53ea\u5dee\u4e5d\u6761<\/h2>\n

\u6211\u4eec\u6309\u7167\u67d3\u8272\u4f53\u3001\u4f4d\u7f6e\u3001\u53c2\u8003\u548c\u5b8c\u6574\u66ff\u4ee3\u5217\u8868\u56db\u9879\u5f62\u6210\u5339\u914d\u952e\uff0c\u5148\u6bd4\u8f83\u6574\u6761\u961f\u5217\u8bb0\u5f55\uff0c\u518d\u6309\u6837\u672c\u540d\u6bd4\u8f83\u57fa\u56e0\u578b\u3002\u4e24\u4e2a\u961f\u5217\u6709\u516d\u5341\u516d\u4e2a\u76f8\u540c\u952e\u3002\u56db\u4eba\u7ec4\u72ec\u6709\u4e24\u4e2a\u65e7\u952e\uff0c\u5341\u4e8c\u4eba\u7ec4\u72ec\u6709\u5341\u4e00\u4e2a\u65b0\u952e\u3002\u62ff\u4e24\u4e2a\u603b\u884c\u6570\u76f8\u51cf\u53ea\u4f1a\u5f97\u5230\u4e5d\uff0c\u65e0\u6cd5\u53d1\u73b0\u5176\u4e2d\u6709\u4e24\u5904\u66f4\u6362\u4e86\u7b49\u4f4d\u8868\u793a\u3002\u5728\u516d\u5341\u516d\u4e2a\u5b8c\u5168\u76f8\u540c\u7684\u952e\u4e0a\uff0c\u56db\u540d\u539f\u59cb\u6837\u672c\u5171\u4e8c\u767e\u516d\u5341\u56db\u4e2a\u57fa\u56e0\u578b\u683c\u5b50\uff0c\u9010\u4e2a\u6309\u540d\u5b57\u5bf9\u9f50\u540e\u6ca1\u6709\u6539\u53d8\u3002\u8fd9\u4e2a\u68c0\u67e5\u53ea\u8986\u76d6\u76f8\u540c\u952e\u7684\u90a3\u4e9b\u683c\u5b50\uff0c\u5bf9\u952e\u5df2\u53d8\u5316\u7684\u5730\u65b9\u4e0d\u80fd\u76f4\u63a5\u7167\u642c\u3002<\/p>\n

\n\n\n\n\n\n\n\n\n
\u5bf9\u7167\u5bf9\u8c61<\/th>\n\u56db\u4eba\u961f\u5217<\/th>\n\u5341\u4e8c\u4eba\u961f\u5217<\/th>\n<\/tr>\n<\/thead>\n
\u5168\u90e8\u961f\u5217\u8bb0\u5f55<\/td>\n68<\/td>\n77<\/td>\n<\/tr>\n
\u4ec5\u672c\u961f\u5217\u6709\u7684\u5b8c\u6574\u53d8\u5f02\u952e<\/td>\n2<\/td>\n11<\/td>\n<\/tr>\n
chr12 \u7684 111815781 \u4f4d<\/td>\nA\u2192T<\/td>\nA\u2192T,ATT<\/td>\n<\/tr>\n
chr12 \u7684 111761958 \u4f4d<\/td>\n\u65e0\u5355\u72ec\u961f\u5217\u8bb0\u5f55<\/td>\nT\u2192C\uff0c11 \u4eba 0\/0\uff0c1 \u4eba 0\/1<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n
\"\u6269\u5145\u961f\u5217\u540e\uff0c\u54ea\u4e9b\u884c\u53d8\u4e86\u3002\u540c\u4e00
\u540c\u4e00 ALDH2 \u533a\u57df\u7684\u56db\u4eba\u548c\u5341\u4e8c\u4eba\u961f\u5217\uff0c\u6309\u5b8c\u6574\u7b49\u4f4d\u952e\u6bd4\u8f83\u3002<\/figcaption><\/figure>\n

\u628a\u4e24\u4e2a\u65e7\u952e\u6309\u67d3\u8272\u4f53\u548c\u8d77\u70b9\u91cd\u65b0\u67e5\u627e\uff0c\u4e24\u4e2a\u4f4d\u7f6e\u5728\u5341\u4e8c\u4eba\u8868\u4e2d\u90fd\u4ecd\u7136\u5b58\u5728\u3002\u5176\u4e00\u539f\u6765\u53c2\u8003\u4e3a A\u3001\u66ff\u4ee3\u4e3a T\uff0c\u73b0\u5728\u591a\u4e86 ATT\uff0c\u65e7\u8868\u4e2d\u7684 T \u4ecd\u5728\u3002\u53e6\u4e00\u4e2a\u4f4d\u7f6e\u843d\u5728\u91cd\u590d\u5e8f\u5217\uff0c\u65e7\u884c\u53c2\u8003\u5b57\u7b26\u4e32\u957f\u4e94\u4e2a\u78b1\u57fa\uff0c\u65b0\u884c\u5ef6\u957f\u5230\u5341\u4e03\u4e2a\uff0c\u5019\u9009\u66ff\u4ee3\u5217\u8868\u4e5f\u53d8\u5316\u3002\u53ea\u6bd4\u8f83\u5b57\u7b26\u4e32\u4f1a\u628a\u65e7\u8bb0\u5f55\u5217\u4e3a\u4e22\u5931\u3002\u53ea\u6bd4\u8f83\u8d77\u70b9\u53c8\u4f1a\u628a\u5168\u90e8\u65b0\u65e7\u7b49\u4f4d\u5f3a\u884c\u89c6\u4e3a\u76f8\u540c\u3002\u5728\u540e\u4e00\u7c7b\u590d\u6742\u4f4d\u7f6e\uff0c\u82e5\u8981\u8ddf\u8e2a\u65e7\u6837\u672c\u7684\u67d0\u4e2a\u7b49\u4f4d\uff0c\u5e94\u5148\u6620\u5c04\u4e3a\u540c\u4e00\u53c2\u8003\u4e0a\u7684\u5177\u4f53\u5e8f\u5217\u53d8\u5316\uff0c\u518d\u6bd4\u8f83\u643a\u5e26\u72b6\u6001\u3002<\/p>\n

\u53e6\u4e00\u4e2a\u4f4d\u7f6e\u5219\u80fd\u770b\u89c1\u65b0\u5019\u9009\u7531\u8c01\u5e26\u6765\u3002\u5341\u4e8c\u53f7\u67d3\u8272\u4f53\u7b2c\u4e00\u4ebf\u4e00\u5343\u4e00\u767e\u4e03\u5341\u516d\u4e07\u4e00\u5343\u4e5d\u767e\u4e94\u5341\u516b\u4f4d\uff0c\u65b0\u589e\u6837\u672c HG00109 \u643a\u5e26 T \u5230 C \u7684\u6742\u5408\uff0c\u539f\u6765\u56db\u4eba\u7684\u65b0\u961f\u5217\u57fa\u56e0\u578b\u90fd\u4e3a\u53c2\u8003\u7eaf\u5408\u3002\u56de\u8bfb\u8be5\u6837\u672c\u7684\u5355\u6837\u672c gVCF\uff0c\u4e09\u5341\u4e00\u6761\u6df1\u5ea6\u4e2d\u5341\u516d\u6761\u652f\u6301\u53c2\u8003\u3001\u5341\u4e94\u6761\u652f\u6301 C\uff0c\u5bf9\u5e94\u57fa\u56e0\u578b\u8d28\u91cf\u4e94\u5341\u56db\u3002\u518d\u770b\u539f\u961f\u5217\u4e2d\u7684 HG00096\uff0c\u540c\u4e00\u4f4d\u7f6e\u843d\u5728\u5b83\u7684\u4e00\u6761\u957f\u53c2\u8003\u5757\u5185\uff0c\u5757\u7684\u6700\u4f4e\u6df1\u5ea6\u4e8c\u5341\u516d\u3001\u8d28\u91cf\u4e94\u5341\u3002\u8fd9\u89e3\u91ca\u4e86\u4e3a\u4ec0\u4e48\u56db\u4eba\u53d8\u5f02\u8868\u6ca1\u8fd9\u4e00\u884c\uff0c\u4f46\u5728\u6269\u5927\u7684\u961f\u5217\u4e2d\u4ecd\u80fd\u4e3a\u539f\u6210\u5458\u63d0\u4f9b\u6709\u4f9d\u636e\u7684\u53c2\u8003\u57fa\u56e0\u578b\u3002\u4f5c\u8005\u5bf9\u7fa4\u4f53 VCF \u8f93\u51fa\u7684\u89e3\u8bfb<\/a><\/p>\n

glnexus_cli --config DeepVariantWGS --threads 2 --mem-gbytes 2 \\\r\n  --bed locus.bed --dir joint4.db --list four-samples.txt > joint4.bcf\r\nglnexus_cli --config DeepVariantWGS --threads 2 --mem-gbytes 2 \\\r\n  --bed locus.bed --dir joint12.db --list twelve-samples.txt > joint12.bcf\r\nbcftools query -l joint12.bcf\r\nbcftools query -f '%CHROM\\t%POS\\t%REF\\t%ALT[\\t%GT]\\n' joint12.bcf\r\n<\/code><\/pre>\n
\u590d\u6838\u8fd9\u79cd\u201c\u65b0\u589e\u201d\u65f6\uff0c\u53c2\u8003\u5757\u7684\u8d77\u70b9\u672a\u5fc5\u7b49\u4e8e\u8981\u67e5\u8be2\u7684\u5750\u6807\u3002\u4f8b\u5982\u4e0a\u8ff0\u53c2\u8003\u6837\u672c\u7684\u539f\u59cb\u5757\u8d77\u4e8e\u4e00\u4ebf\u4e00\u5343\u4e00\u767e\u4e03\u5341\u516d\u4e07\u4e00\u5343\u4e8c\u767e\u4e5d\u5341\u4e8c\uff0c\u6b62\u4e8e\u4e00\u4ebf\u4e00\u5343\u4e00\u767e\u4e03\u5341\u516d\u4e07\u4e8c\u5343\uff0c\u6a2a\u8de8\u8981\u67e5\u7684\u4f4d\u7f6e\u3002\u5728\u538b\u7f29\u6587\u672c\u91cc\u53ea\u641c\u7d22\u76ee\u6807\u5750\u6807\u7684\u6570\u5b57\uff0c\u4f1a\u6f0f\u6389\u8fd9\u6761\u6709\u6548\u7684\u53c2\u8003\u8bc1\u636e\u3002\u7528\u652f\u6301\u533a\u95f4\u91cd\u53e0\u7684\u67e5\u8be2\uff0c\u6216\u76f4\u63a5\u6838\u5bf9\u8d77\u70b9\u548c\u7ed3\u675f\u5b57\u6bb5\uff0c\u518d\u628a\u6837\u672c\u540d\u548c\u6240\u7528\u6587\u4ef6\u4e00\u5e76\u8bb0\u4e0b\u3002<\/p>\n
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