Bioinformatics

File:Formato-fastq.svg

FASTQ stores sequence reads and quality scores. Source: Wikimedia Commons, CC BY 4.0.

File:Histone Alignment.png

Sequence alignment is a common downstream bioinformatics task. Source: Wikimedia Commons, CC BY 4.0.

Bioinformatics is part of the Wiki learning path. Nanopore bioinformatics converts raw signals and reads into interpretable sequence, alignment, assembly, variant, modification, and classification results.

Core concepts

• Basecalling converts raw signal into sequence and quality values.
• Read quality, length distribution, adapters, contamination, and coverage shape downstream results.
• Long reads support assembly and structural variant discovery but still require quality-aware analysis.
• Model and software versions are part of the scientific record.

Sequencing data workflow

Step	Description
1	Collect raw signal and run metadata.
2	Basecall into reads and quality scores.
3	Run quality control and filtering.
4	Align, assemble, classify, call variants, or detect modifications according to the question.
5	Report tools, versions, parameters, and reference data.

Typical applications

• Genome assembly.
• Structural variant detection.
• Metagenomics and pathogen classification.
• RNA sequencing and modification detection.

Common pitfalls

• Using a pipeline without recording model versions.
• Ignoring contamination and coverage bias.
• Overstating clinical or taxonomic conclusions from weak evidence.

Related pages

• Nanopore sequencing
• Data analysis
• Event detection
• Glossary

References

• Bioinformatics
• Sequence alignment