<!-- Source: https://docs.biosimulant.com/standards/model-compatibility/catalogue-domains/genome -->

# Genome and variation profiles

All profiles in the Genome and variation domain, version 0.1.0-alpha.5. The Review column shows each profile's review status. In this release every profile is candidate or draft, and none has been scientifically reviewed yet. A profile describes whether two ports fit together; it does not establish scientific validity or clinical safety.

| Profile | Name | Stage | Review | Required items |
|---|---|---:|---:|---:|
| <span id="allele-frequency"></span>[Allele Frequency](/standards/model-compatibility/profiles/genome/allele-frequency/v0.1.json) | `allele-frequency` | WAVE_2 | candidate | 4 |
| <span id="copy-number-state"></span>[Copy Number State](/standards/model-compatibility/profiles/genome/copy-number-state/v0.1.json) | `copy-number-state` | WAVE_2 | candidate | 4 |
| <span id="copy-number-variant"></span>[Copy Number Variant](/standards/model-compatibility/profiles/genome/copy-number-variant/v0.1.json) | `copy-number-variant` | WAVE_2 | candidate | 6 |
| <span id="crispr-edit"></span>[CRISPR Edit](/standards/model-compatibility/profiles/genome/crispr-edit/v0.1.json) | `crispr-edit` | WAVE_2 | candidate | 4 |
| <span id="gene-mutation-vector"></span>[Gene Mutation Vector](/standards/model-compatibility/profiles/genome/gene-mutation-vector/v0.1.json) | `gene-mutation-vector` | V0.1_PILOT | draft | 8 |
| <span id="gene-presence-absence"></span>[Gene Presence/Absence](/standards/model-compatibility/profiles/genome/gene-presence-absence/v0.1.json) | `gene-presence-absence` | WAVE_2 | candidate | 6 |
| <span id="genome-annotation"></span>[Genome Annotation](/standards/model-compatibility/profiles/genome/genome-annotation/v0.1.json) | `genome-annotation` | WAVE_2 | candidate | 4 |
| <span id="genomic-region"></span>[Genomic Region](/standards/model-compatibility/profiles/genome/genomic-region/v0.1.json) | `genomic-region` | WAVE_2 | candidate | 4 |
| <span id="genomic-variant"></span>[Genomic Variant](/standards/model-compatibility/profiles/genome/genomic-variant/v0.1.json) | `genomic-variant` | WAVE_2 | candidate | 6 |
| <span id="genotype"></span>[Genotype](/standards/model-compatibility/profiles/genome/genotype/v0.1.json) | `genotype` | WAVE_2 | candidate | 4 |
| <span id="guide-rna"></span>[Guide RNA](/standards/model-compatibility/profiles/genome/guide-rna/v0.1.json) | `guide-rna` | WAVE_2 | candidate | 4 |
| <span id="haplotype"></span>[Haplotype](/standards/model-compatibility/profiles/genome/haplotype/v0.1.json) | `haplotype` | WAVE_2 | candidate | 4 |
| <span id="indel"></span>[Indel](/standards/model-compatibility/profiles/genome/indel/v0.1.json) | `indel` | WAVE_2 | candidate | 4 |
| <span id="paired-end-reads"></span>[Paired-end Reads](/standards/model-compatibility/profiles/genome/paired-end-reads/v0.1.json) | `paired-end-reads` | WAVE_2 | candidate | 4 |
| <span id="phased-genotype"></span>[Phased Genotype](/standards/model-compatibility/profiles/genome/phased-genotype/v0.1.json) | `phased-genotype` | WAVE_2 | candidate | 4 |
| <span id="ploidy-state"></span>[Ploidy State](/standards/model-compatibility/profiles/genome/ploidy-state/v0.1.json) | `ploidy-state` | WAVE_2 | candidate | 4 |
| <span id="polygenic-score"></span>[Polygenic Score](/standards/model-compatibility/profiles/genome/polygenic-score/v0.1.json) | `polygenic-score` | WAVE_2 | candidate | 7 |
| <span id="raw-sequence"></span>[Raw Sequence](/standards/model-compatibility/profiles/genome/raw-sequence/v0.1.json) | `raw-sequence` | WAVE_2 | candidate | 6 |
| <span id="read-pileup"></span>[Read Pileup](/standards/model-compatibility/profiles/genome/read-pileup/v0.1.json) | `read-pileup` | WAVE_2 | candidate | 4 |
| <span id="reference-sequence"></span>[Reference Sequence](/standards/model-compatibility/profiles/genome/reference-sequence/v0.1.json) | `reference-sequence` | WAVE_2 | candidate | 6 |
| <span id="sequence-alignment"></span>[Sequence Alignment](/standards/model-compatibility/profiles/genome/sequence-alignment/v0.1.json) | `sequence-alignment` | WAVE_2 | candidate | 6 |
| <span id="sequencing-read"></span>[Sequencing Read](/standards/model-compatibility/profiles/genome/sequencing-read/v0.1.json) | `sequencing-read` | WAVE_2 | candidate | 4 |
| <span id="single-nucleotide-variant"></span>[Single Nucleotide Variant](/standards/model-compatibility/profiles/genome/single-nucleotide-variant/v0.1.json) | `single-nucleotide-variant` | WAVE_2 | candidate | 6 |
| <span id="structural-variant"></span>[Structural Variant](/standards/model-compatibility/profiles/genome/structural-variant/v0.1.json) | `structural-variant` | WAVE_2 | candidate | 6 |
| <span id="variant-consequence"></span>[Variant Consequence](/standards/model-compatibility/profiles/genome/variant-consequence/v0.1.json) | `variant-consequence` | WAVE_2 | candidate | 6 |

Each profile links to its JSON definition. See the [catalogue](/standards/model-compatibility/catalogue) for search, filters and what the Stage and Review columns mean.
