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`--top`一般不需要对整个fastq文件进行检索,取前100000行 |
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`--top`一般不需要对整个fastq文件进行检索,取前100000行 |
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`` |
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###2. 比对后数据质量控制 |
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###2. 比对后数据质量控制 |
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#### [Qualimap](<http://qualimap.bioinfo.cipf.es/>) |
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#### [Qualimap](<http://qualimap.bioinfo.cipf.es/>) |
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Qualimap是⼀一个⽐比对指控软件,包含Picard的MarkDuplicates的结果和sentieon中metrics的质控结果。 |
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```bash |
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```bash |
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qualimap bamqc -bam <bam_file> -outformat PDF:HTML -nt <threads> -outdir <output_directory> --java-mem-size=32G |
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qualimap bamqc -bam <bam_file> -outformat PDF:HTML -nt <threads> -outdir <output_directory> --java-mem-size=32G |
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``` |
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``` |
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#### [Hap.py](<https://github.com/Illumina/hap.py>) |
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#### [Hap.py](<https://github.com/Illumina/hap.py>) |
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hap.py是将被检测vcf结果与benchmarking对比,计算precision和recall的软件,它考虑了vcf中突变表示形式的多样性,进行了归一化。 |
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```bash |
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```bash |
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hap.py <truth_vcf> <query_vcf> -f <bed_file> --threads <threads> -o <output_filename> |
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hap.py <truth_vcf> <query_vcf> -f <bed_file> --threads <threads> -o <output_filename> |
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``` |
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``` |
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#### [Jaccard index](<https://en.wikipedia.org/wiki/Jaccard_index>) |
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#### [Jaccard index](<https://en.wikipedia.org/wiki/Jaccard_index>) |
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Jaccard index是两个集合的交集除以两个集合的并集。这个计算过程用的是rtg-tools的vcfeval, |
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```bash |
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```bash |
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rtg vcfeval -b <one_vcf> -c <another_vcf> -o <output_directory> -t <sdf_file> |
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rtg vcfeval -b <one_vcf> -c <another_vcf> -o <output_directory> -t <sdf_file> |
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``` |
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``` |