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Merge pull request #4977 from rlibouba/update_slides_intro_genome_ann…
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Add new informations: Helixer, compleasm and OMArk
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abretaud authored May 31, 2024
2 parents c61f670 + b81ca96 commit 439bd52
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34 changes: 32 additions & 2 deletions topics/genome-annotation/tutorials/introduction/slides.html
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---

### Data Reconcilliation
### Data Reconciliation

.pull-left[

- Integration of evidence and *ab initio* predictions
- "Consensus" of multiple sources
- Automated pipelines
- [**Maker**]({% link topics/genome-annotation/tutorials/annotation-with-maker-short/tutorial.md %}), **Braker**, [**Funannotate**]({% link topics/genome-annotation/tutorials/funannotate/tutorial.md %}), **Pasa**, **Prokka**, ...
- [**Maker**]({% link topics/genome-annotation/tutorials/annotation-with-maker-short/tutorial.md %}), **Braker**, **Braker3**, [**Funannotate**]({% link topics/genome-annotation/tutorials/funannotate/tutorial.md %}), **Pasa**, **Prokka**, ...
- Align evidences (or use pre-aligned)
- Run *ab initio* predictors
- Reconciliate gene models
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### Evaluation of annotation: Compleasm
* "A faster and more accurate reimplementation of BUSCO"
* Similar results as BUSCO:
* Found genes
* Fragmented genes
* Duplicated genes

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### Evaluation of annotation: OMArk

* Assign proteins to HOGs using k-mer composition
* HOG = Hierarchical Orthologous Groups (gene families from OMA db)
* Differences vs BUSCO:
* Completeness: also considers genes conserved in multiple copies
* Consistency: checks if (all) proteins matches the auto-detected lineage or not

---

### Visualisation of Results

Genome Browsers (JBrowse, UCSC, ...)
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- [RepeatMasker]({% link topics/genome-annotation/tutorials/repeatmasker/tutorial.md %})
- RepeatModeler
- REPET
- Red
- Databases of repeated elements
- Can be used by pipelines
- Dfam
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---

### Helixer: a new and different approach

#### Why is this approach so different?

- Ab-initio annotation of genes in large eukaryotic genomes
- Based on a cross-species deep learning model
- No need for any evidences (RNASeq, aligments, etc)
- Uses GPUs, fast runtime (few hours max)
---

## Manual Annotation

- Recruit experts of some gene families
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