{"id":70101,"date":"2026-11-14T23:04:58","date_gmt":"2026-11-14T15:04:58","guid":{"rendered":"https:\/\/www.biocloudservice.com\/wordpress\/?p=70101"},"modified":"2026-11-14T23:04:58","modified_gmt":"2026-11-14T15:04:58","slug":"bcftools-multiallelic-split-ad-genotype-denominator","status":"publish","type":"post","link":"https:\/\/www.biocloudservice.com\/wordpress\/bcftools-multiallelic-split-ad-genotype-denominator\/","title":{"rendered":"BCFtools \u5b9e\u8dd1\uff5c\u62c6\u5f00\u4e00\u4e2a\u591a\u7b49\u4f4d\u4f4d\u70b9\uff0c\u4e3a\u4ec0\u4e48\u540c\u4e00\u6279\u8bfb\u6bb5\u80fd\u7b97\u51fa\u4e24\u79cd\u53d8\u5f02\u6bd4\u4f8b\uff1f"},"content":{"rendered":"
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\u62c6\u5206\u524d\u5148\u8bfb\u61c2\u56db\u4e2a\u7b26\u53f7<\/h2>\n

VCF \u4ee5\u53c2\u8003\u7b49\u4f4d\u4e3a\u96f6\u53f7\uff0c\u540e\u9762\u7684\u66ff\u4ee3\u7b49\u4f4d\u6309 ALT \u5217\u4e2d\u7684\u987a\u5e8f\u4ece\u4e00\u5f00\u59cb\u7f16\u53f7\u3002\u672c\u4f8b\u53c2\u8003\u4e3a A\uff0c\u66ff\u4ee3\u4f9d\u6b21\u662f C \u548c G\u3002\u7b2c\u4e00\u4e2a\u6837\u672c\u57fa\u56e0\u578b\u4e3a 1\/2<\/code>\uff0c\u4e24\u6761\u62f7\u8d1d\u5206\u522b\u643a\u5e26 C \u548c G\uff0c\u659c\u7ebf\u8868\u793a\u6ca1\u6709\u5728\u5b57\u6bb5\u4e2d\u6307\u5b9a\u76f8\u4f4d\u3002\u7b2c\u4e8c\u4e2a\u6837\u672c\u4e3a 0\/2<\/code>\uff0c\u643a\u5e26 A \u548c G\u3002\u683c\u5f0f\u5934\u8fd8\u58f0\u660e\u7b49\u4f4d\u6df1\u5ea6\u4f9d\u7167\u53c2\u8003\u4e0e\u6240\u6709\u66ff\u4ee3\u7b49\u4f4d\u7684\u987a\u5e8f\u6392\u5217\uff0c\u6240\u4ee5\u6837\u672c\u4e00\u7684\u4e09\u4e2a\u6570\u5bf9\u5e94 A\u3001C\u3001G\uff0c\u6837\u672c\u4e8c\u7684\u4e09\u4e2a\u6570\u5219\u4e3a\u5341\u3001\u96f6\u3001\u516b\u3002\u4f4d\u70b9\u7684\u5e8f\u5217\u540d\u548c\u4f4d\u7f6e\u76f8\u540c\uff0c\u6837\u672c\u5c42\u9762\u7684\u8bc1\u636e\u4ecd\u8981\u5206\u5f00\u8bfb\u3002VCF 4.3 \u5bf9\u57fa\u56e0\u578b\u4e0e\u7b49\u4f4d\u6df1\u5ea6\u7684\u5b9a\u4e49<\/a><\/p>\n

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\u5b9e\u8dd1\u7ecf\u9a8c\uff5c\u770b\u7740 C \u884c\u91cc\u7684\u4e09\u4e2a\u6570\u600e\u6837\u79fb\u52a8<\/h2>\n

\u5b89\u88c5 BCFtools 1.19\uff0c\u4f7f\u7528\u5b83\u7684\u89c4\u8303\u5316\u547d\u4ee4\u628a\u591a\u7b49\u4f4d\u8bb0\u5f55\u62c6\u6210\u4e24\u6761\u3002\u5b9e\u9a8c\u7684\u8f93\u5165\u53ea\u6709\u4e00\u4e2a\u4f4d\u7f6e\u3001\u4e24\u4e2a\u6837\u672c\uff0c\u5305\u542b\u57fa\u56e0\u578b\u3001\u9010\u7b49\u4f4d\u6df1\u5ea6\u548c\u603b\u6df1\u5ea6\u3002\u7b2c\u4e00\u6b21\u4f7f\u7528\u9ed8\u8ba4\u62c6\u5206\uff0c\u7b2c\u4e8c\u6b21\u589e\u52a0\u4fdd\u6301\u7b49\u4f4d\u6df1\u5ea6\u603b\u548c\u7684\u9009\u9879\uff0c\u7b2c\u4e09\u6b21\u8981\u6c42\u5728\u62c6\u5206\u57fa\u56e0\u578b\u65f6\u628a\u53e6\u4e00\u4e2a\u66ff\u4ee3\u7b49\u4f4d\u8bb0\u4e3a\u7f3a\u5931\u3002\u4e09\u4e2a\u8f93\u51fa\u90fd\u91cd\u65b0\u7528\u67e5\u8be2\u547d\u4ee4\u6309\u6837\u672c\u5bfc\u51fa\uff0c\u76f4\u63a5\u8bfb\u53d6\u7a0b\u5e8f\u5199\u4e0b\u7684\u5b57\u6bb5\u503c\u3002BCFtools norm \u5b98\u65b9\u9009\u9879\u8bf4\u660e<\/a><\/p>\n

\n\n\n\n\n\n\n\n
\u6837\u672c\u4e00\u7684\u8f93\u51fa\u65b9\u5f0f<\/th>\nC \u884c\u7684 GT\uff0fAD\uff0fDP<\/th>\nG \u884c\u7684 GT\uff0fAD\uff0fDP<\/th>\n<\/tr>\n<\/thead>\n
\u9ed8\u8ba4\u62c6\u5206<\/td>\n1\/0\uff0c3,7\uff0c21<\/td>\n0\/1\uff0c3,11\uff0c21<\/td>\n<\/tr>\n
\u4fdd\u6301 AD \u603b\u548c<\/td>\n1\/0\uff0c14,7\uff0c21<\/td>\n0\/1\uff0c10,11\uff0c21<\/td>\n<\/tr>\n
\u5176\u4ed6\u66ff\u4ee3\u7b49\u4f4d\u8bbe\u7f3a\u5931<\/td>\n1\/.\uff0c3,7\uff0c21<\/td>\n.\/1\uff0c3,11\uff0c21<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n
\"\u62c6\u5206\u4f4d\u70b9\uff0c\u5206\u6bcd\u53bb\u54ea\u4e86\u3002\u6837\u672c\u539f\u6709
\u6837\u672c\u539f\u6709 A\u3001C\u3001G \u4e09\u7c7b\u8bfb\u6bb5\uff0c\u5206\u522b\u4e3a 3\u30017\u300111 \u6761\u3002<\/figcaption><\/figure>\n

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\u7b2c\u4e8c\u4e2a\u6837\u672c\u63d0\u4f9b\u4e86\u66f4\u76f4\u89c2\u7684\u68c0\u67e5\u3002\u5b83\u539f\u6765\u6709\u5341\u6761 A\u3001\u96f6\u6761 C\u3001\u516b\u6761 G\u3002\u9ed8\u8ba4\u62c6\u5206\u540e\uff0cC \u884c\u662f\u53c2\u8003\u7eaf\u5408\u7684\u7f16\u7801\uff0c\u7b49\u4f4d\u6df1\u5ea6\u5341\u548c\u96f6\uff0c\u603b\u6df1\u5ea6\u5341\u516b\u3002\u4fdd\u6301\u603b\u548c\u540e\uff0cC \u884c\u53d8\u6210\u5341\u516b\u548c\u96f6\uff0c\u800c\u8f93\u5165\u4e2d\u771f\u6b63\u652f\u6301 A \u7684\u4ecd\u53ea\u6709\u5341\u6761\u3002\u82e5\u9762\u5bf9\u7684\u662f\u8981\u7b5b\u9009\u201c\u643a\u5e26 C \u7684\u6837\u672c\u201d\uff0c\u5176\u7ed3\u8bba\u6070\u597d\u76f8\u540c\u3002\u82e5\u5199\u6210\u201c\u5341\u516b\u6761\u90fd\u89c2\u6d4b\u5230\u53c2\u8003\u78b1\u57fa A\u201d\uff0c\u8bc1\u636e\u5c31\u4e0d\u652f\u6301\u3002\u6837\u672c\u4e8c\u7684 G \u884c\u4fdd\u7559\u5341\u548c\u516b\uff0c\u56e0\u4e3a\u88ab\u53bb\u6389\u7684 C \u5728\u8fd9\u4e2a\u6837\u672c\u91cc\u8ba1\u6570\u521a\u597d\u4e3a\u96f6\u3002<\/p>\n

bcftools norm -m -any -Ov -o split.vcf in.vcf\r\nbcftools norm -m -any --keep-sum AD -Ov -o sum.vcf in.vcf\r\nbcftools norm -m -any --multi-overlaps . -Ov -o missing.vcf in.vcf\r\nbcftools query -f '%CHROM\\t%POS\\t%REF\\t%ALT[\\t%GT:%AD:%DP]\\n' split.vcf\r\n<\/code><\/pre>\n
\u53e6\u4e00\u4e2a\u5bb9\u6613\u6f0f\u6389\u7684\u7ec6\u8282\u662f\u4e24\u4e2a\u8f93\u51fa\u884c\u90fd\u5e26\u7740\u4e8c\u5341\u4e00\u7684\u603b\u6df1\u5ea6\u3002\u628a C \u884c\u548c G \u884c\u76f8\u52a0\u5f97\u5230\u56db\u5341\u4e8c\uff0c\u662f\u628a\u540c\u4e00\u6279\u89c2\u6d4b\u91cd\u590d\u8ba1\u7b97\u4e86\u4e24\u6b21\u3002\u82e5\u8981\u7edf\u8ba1\u539f\u4f4d\u70b9\u603b\u6df1\u5ea6\uff0c\u56de\u5230\u62c6\u5206\u524d\u7684\u90a3\u4e00\u884c\u8bfb\u53d6\u3002\u82e5\u8981\u7edf\u8ba1\u6bcf\u79cd\u66ff\u4ee3\u7684\u652f\u6301\u6570\uff0c\u5219\u5206\u522b\u53d6\u4e03\u548c\u5341\u4e00\uff0c\u5e76\u8bb0\u4f4f\u8fd9\u4e24\u4efd\u8bc1\u636e\u6765\u81ea\u540c\u4e00\u4e2a\u6837\u672c\u3001\u540c\u4e00\u4e2a\u4f4d\u7f6e\u3002\u5bf9\u591a\u7b49\u4f4d\u4f4d\u70b9\u5f88\u591a\u7684\u961f\u5217\uff0c\u8fd9\u4e2a\u5dee\u5f02\u4f1a\u5728\u6309\u57fa\u56e0\u6c47\u603b\u65f6\u7d2f\u79ef\u3002<\/p>\n
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