bed vcf 文件 GRCH37(hg19) 转 GRCH38(hg38)

 

准备文件:

hg19ToHg38.over.chain.gz
hg38ToHg19.over.chain.gz

GRCh37_to_GRCh38.chain.gz
GRCh37_to_GRCh38.chain.gz

下载网页打开很慢,已经放到百度云盘

链接:https://pan.baidu.com/s/1CGQ4TtaibfiMPlkFXSD4yQ
提取码:oqkd

1. bed 文件 hg19转hg38 (GRCH同理)

工具:liftover

liftover只能处理bed格式

liftOver input_hg19.bed  hg19ToHg38.over.chain.gz output_hg38.bed unmap.bed

2. vcf文件 GRCH37转GRCH38

工具:vcf-liftover  

本质上是调用liftover,速度很快

github链接:https://github.com/liqg/vcf-liftover

zcat input.vcf.gz | ~/vcf-liftover GRCh37_to_GRCh38.chain.gz | bgzip -c > output.vcf.gz

3.picard GRCH37转GRCH38

需要加载参考基因组,速度慢,不是很推荐

##picard 建立参考基因组索引
java -jar ~/picard.jar CreateSequenceDictionary \
        R= ~/GRCH38/Homo_sapiens.GRCh38.97.dna.primary_assembly.fa O= ~/GRCH38/Homo_sapiens.GRCh38.97.dna.primary_assembly.dict
## picard 转换坐标
java -jar ~/software/picard.jar LiftoverVcf I= input.vcf.gz O= output.vcf.gz \ CHAIN= ~/GRCh37_to_GRCh38.chain.gz REJECT=unmap_rejected_variants.vcf R=~/GRCH38/Homo_sapiens.GRCh38.97.dna.primary_assembly.fa

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转载自www.cnblogs.com/wwddff/p/12359340.html