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三代测序Nanopore数据检测甲基化位点

参考Nanopolish官方文档

数据预处理

cat fastq_pass/*.fastq > sample.fastq
nanopolish index -d fast5_pass/ sample.fastq

将reads比对到参考基因组

minimap2 -a -x map-ont reference.fasta output.fastq | samtools sort -T tmp -o output.sorted.bam
samtools index output.sorted.bam

甲基化鉴定

nanopolish call-methylation -t 8 -r output.fastq -b output.sorted.bam -g reference.fasta > methylation_calls.tsv