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维护者 FreedomIntelligence · 最近更新 2026年4月1日
Polish assemblies and call variants from Oxford Nanopore data using medaka. Uses neural networks trained on specific basecaller versions. Use when improving ONT-only assemblies or calling variants from Nanopore data without short-read polishing.
原始来源
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-longread-medaka
技能摘要
原始文档
medaka_variant
-i reads.fastq.gz
-r reference.fa
-o output_dir
-m r1041_e82_400bps_sup_v5.0.0
Note: Diploid variant calling has been deprecated in medaka v2.0. For diploid samples, use [Clair3](https://github.com/HKU-BAL/Clair3) instead.
## Step-by-Step Workflow
**Goal:** Polish an ONT assembly or call variants using medaka's neural network models with explicit control over each step.
**Approach:** Align reads with minimap2, run medaka neural network inference on the alignment, then generate either a polished consensus or variant calls from the probability output.
```bash
## 1. Align reads to reference/draft
minimap2 -ax map-ont reference.fa reads.fastq.gz | \
samtools sort -o aligned.bam
samtools index aligned.bam
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