Individual skill

bio-long-read-sequencing-long-read-alignment

Aligns Oxford Nanopore and PacBio long reads (and assemblies) to a reference with minimap2 using the error-rate-matched preset (map-ont, lr:hq, map-hifi, map-pb, splice/splice:hq, asm5/10/20, ava), producing a sorted/indexed BAM for variant, SV, methylation, or isoform analysis. Covers why the preset rewrites the scoring/chaining model, why SV calling rides on supplementary not secondary alignments, carrying MM/ML methylation tags through with -y, the multi-part-index MAPQ trap, and when to swap in Winnowmap/VACmap/lra/pbmm2. Use when mapping ONT or PacBio reads, choosing a minimap2 preset by platform/chemistry, preparing input for Clair3/medaka/Sniffles/modkit, aligning into repeats/centromeres, or spliced-aligning cDNA/Iso-Seq.

skills/bioskills/bio-long-read-sequencing-long-read-alignment/SKILL.md

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Nov 3, 2026
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MIT

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## Version Compatibility

Reference examples tested with: minimap2 2.28+, samtools 1.19+, winnowmap 2.03+, pbmm2 1.13+.

Before using code patterns, verify installed versions match. If versions differ:
- CLI: `<tool> --version` then `<tool> --help` to confirm flags

Version-driven behavior to record:
- `lr:hq` and `map-iclr` were added in minimap2 2.27; `lr:hqae` in 2.28. Use >=2.28.
- `--MD` was broken by the 2.27 `--ds` addition and fixed in 2.28; use >=2.28 for any MD-dependent caller.
- A prebuilt `.mmi` index bakes in k/w/H/I - it must be built with the same preset used for alignment.

If code throws an error, introspect the installed tool (`minimap2 --help`, man page) and adapt the example to the actual API rather than retrying.