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数据与复现
BI
bio-liquid-biopsy-pipeline
维护者 FreedomIntelligence · 最近更新 2026年4月1日
Liquid biopsy: cfDNA/ctDNA QC → mutation detection → TMB → MRD.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-liquid-biopsy-pipeline
- 维护者
- FreedomIntelligence
- 许可
- MIT
- 最近更新
- 2026年4月1日
技能摘要
来自 SKILL.md 的关键信息
核心说明
- Complete workflow ，用于 cfDNA analysis ，面向 sequencing to clinical interpretation。
- fgbio ExtractUmisFromBam \ --input raw.bam \ --output with_umis.bam \ --read-structure 3M2S+T 3M2S+T \ --single-tag RX。
原始文档
SKILL.md 摘录
Align
bwa mem -t 8 -Y reference.fa with_umis.bam |
samtools view -bS - > aligned.bam
Group by UMI
fgbio GroupReadsByUmi
--input aligned.bam
--output grouped.bam
--strategy adjacency
--edits 1
Consensus calling
fgbio CallMolecularConsensusReads
--input grouped.bam
--output consensus.bam
--min-reads 2
适用场景
- Use bio-liquid-biopsy-pipeline ，用于 genomics 、 bioinformatics workflows。
- Apply bio-liquid-biopsy-pipeline to sequencing，variant，或 omics analysis tasks。
不适用场景
- Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。
上游相关技能
- liquid-biopsy/cfdna-preprocessing - Preprocessing details
- liquid-biopsy/tumor-fraction-estimation - ichorCNA analysis
- liquid-biopsy/ctdna-mutation-detection - Variant calling
- liquid-biopsy/fragment-analysis - Fragmentomics
- liquid-biopsy/longitudinal-monitoring - Serial tracking
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