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
Allele Frequency	allele-frequency	WAVE_2	candidate	4
Copy Number State	copy-number-state	WAVE_2	candidate	4
Copy Number Variant	copy-number-variant	WAVE_2	candidate	6
CRISPR Edit	crispr-edit	WAVE_2	candidate	4
Gene Mutation Vector	gene-mutation-vector	V0.1_PILOT	draft	8
Gene Presence/Absence	gene-presence-absence	WAVE_2	candidate	6
Genome Annotation	genome-annotation	WAVE_2	candidate	4
Genomic Region	genomic-region	WAVE_2	candidate	4
Genomic Variant	genomic-variant	WAVE_2	candidate	6
Genotype	genotype	WAVE_2	candidate	4
Guide RNA	guide-rna	WAVE_2	candidate	4
Haplotype	haplotype	WAVE_2	candidate	4
Indel	indel	WAVE_2	candidate	4
Paired-end Reads	paired-end-reads	WAVE_2	candidate	4
Phased Genotype	phased-genotype	WAVE_2	candidate	4
Ploidy State	ploidy-state	WAVE_2	candidate	4
Polygenic Score	polygenic-score	WAVE_2	candidate	7
Raw Sequence	raw-sequence	WAVE_2	candidate	6
Read Pileup	read-pileup	WAVE_2	candidate	4
Reference Sequence	reference-sequence	WAVE_2	candidate	6
Sequence Alignment	sequence-alignment	WAVE_2	candidate	6
Sequencing Read	sequencing-read	WAVE_2	candidate	4
Single Nucleotide Variant	single-nucleotide-variant	WAVE_2	candidate	6
Structural Variant	structural-variant	WAVE_2	candidate	6
Variant Consequence	variant-consequence	WAVE_2	candidate	6

Each profile links to its JSON definition. See the catalogue for search, filters and what the Stage and Review columns mean.