HLA NGS数据分析

zd00572

Posted by zd200572 on September 10, 2017

主要是参考这个进行的,https://github.com/humanlongevity/HLA 其文章在这:http://www.pnas.org/content/early/2017/06/27/1707945114

首先是拿到fastq文件,然后进行了下fastqc质控,发现质量不咋地,死马当活马医,试试。 然后是bwa比对,先是

bwa index /home/biolinux/reference/hg38.fa #建立索引
bwa mem /home/biolinux/reference/hg38.fa /home/biolinux/Downloads/HLA.fastq > hla.sam #然后比对
samtools view -S hla.sam -b > hla.bam #格式转换
samtools sort hla.bam hla_sorted.bam # 排序
samtools index hla_sorted.bam # 索引

最后,进行xhla算法比对。

docker run -v `pwd`:`pwd` -w `pwd` humanlongevity/hla --sample_id test --input_bam_path hla.bam --output_path test

得出结果,一个比较疑惑的地方是hg38(without alt contigs)没搞懂。有待解决。

{
 "subject_id": "test", 
 "creation_time": "2017-09-19T07:09:32Z", 
 "report_version": "1.2", 
 "report_type": "hla_typing", 
 "sample_id": "test", 
 "hla": {
  "alleles": [
   "A*24:290", 
   "A*24:290", 
   "C*07:02", 
   "C*07:02", 
   "DPB1*13:01", 
   "DPB1*33:01", 
   "DQB1*06:11", 
   "DQB1*06:39", 
   "DRB1*15:01", 
   "DRB1*16:01"
  ]
 }
}