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维护者 FreedomIntelligence · 最近更新 2026年4月1日
Long-read structural variant calling and annotation pipeline.
原始来源
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-workflows-longread-sv-pipeline
技能摘要
原始文档
minimap2 -ax map-ont
-t 16
--MD
-Y
reference.fa
reads.fastq.gz |
samtools sort -@ 4 -o aligned.bam
samtools index aligned.bam
minimap2 -ax map-hifi
-t 16
--MD
-Y
reference.fa
reads.fastq.gz |
samtools sort -@ 4 -o aligned.bam
minimap2 -ax map-pb
-t 16
--MD
-Y
reference.fa
reads.fastq.gz |
samtools sort -@ 4 -o aligned.bam
bash
samtools flagstat aligned.bam
samtools depth -a aligned.bam | awk '{sum+=$3} END {print "Average coverage:",sum/NR}'
- Mapping rate >90%
- Average coverage >10x for SV calling (>20x preferred)
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