微卫星不稳定是基因中的修复机制出现了问题
分三种情况计算,因为算法对每种计算类型有处理:
- 配对:msisensor
# 依赖
/msisensor/msisensor scan -d hg19.simp.fa -o microsatellites.list
# 计算
/msisensor/msisensor msi -d /data/resource/microsatellites.list -n normal.bam -t tumor.bam -e bed.file -o ${sample}.tumor.msi
- ctDNA:msisensor-ct
/msisensor-ct/msisensor-ct msi -D -M /msisensor-ct/models_hg19_GRCh37 -t ${umi_bam} -o ${sample}.tumor.msi
- 组织样本:msisensor2
/msisensor2/msisensor2 msi -M /msisensor2/models_hg19_GRCh37/ -t ${umi_bam} -e ${bed} -b 8 -o ${sample}.tumor.msi