CLOVE: classification of genomic fusions into structural variation events

BMC Bioinformatics

Table 1 Simple SV event labels defined by their breakend signature

Chromosomes\|	Orientations
Chromosomes\|	+		−
chr₁ = chr₂	+	Inversion type 1 (INV1)	Deletion type (DEL)
chr₁ = chr₂	−	Tandem duplication (TAN)	Inversion type 2 (INV2)
chr₁ ≠ chr₂	+	Inter-chromosomal inversion type 1 (INVTX1)	Inter-chromosomal translocation type 1 (ITX1)
chr₁ ≠ chr₂	−	Inter-chromosomal translocation type 2 (ITX2)	Inter-chromosomal translocation type 2 (INVTX2)

Rows refer to the orientation of the first breakend and columns to the orientation of the second breakend. Simple events may be combined into complex event types; for example, an inversion (an inverted segment of DNA) is comprised of the two simple events INV1 and INV2

ISSN: 1471-2105