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`--top`一般不需要对整个fastq文件进行检索,取前100000行 `--top`一般不需要对整个fastq文件进行检索,取前100000行


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###2. 比对后数据质量控制 ###2. 比对后数据质量控制


#### [Qualimap](<http://qualimap.bioinfo.cipf.es/>) #### [Qualimap](<http://qualimap.bioinfo.cipf.es/>)


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。

```bash ```bash
qualimap bamqc -bam <bam_file> -outformat PDF:HTML -nt <threads> -outdir <output_directory> --java-mem-size=32G qualimap bamqc -bam <bam_file> -outformat PDF:HTML -nt <threads> -outdir <output_directory> --java-mem-size=32G
``` ```


#### [Hap.py](<https://github.com/Illumina/hap.py>) #### [Hap.py](<https://github.com/Illumina/hap.py>)


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。

```bash ```bash
hap.py <truth_vcf> <query_vcf> -f <bed_file> --threads <threads> -o <output_filename> hap.py <truth_vcf> <query_vcf> -f <bed_file> --threads <threads> -o <output_filename>
``` ```


#### [Jaccard index](<https://en.wikipedia.org/wiki/Jaccard_index>) #### [Jaccard index](<https://en.wikipedia.org/wiki/Jaccard_index>)


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,

```bash ```bash
rtg vcfeval -b <one_vcf> -c <another_vcf> -o <output_directory> -t <sdf_file> rtg vcfeval -b <one_vcf> -c <another_vcf> -o <output_directory> -t <sdf_file>
``` ```

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