Mutational Signatures (v3.4 - October 2023)

Structural variations (SVs) are large genomic changes typically exceeding 1kb in length, which impact the arrangement of the genome. Types of SVs include large deletions (removal of a genomic segment), tandem duplications (addition of a repeated genomic segment), inversions (flipping of a genomic segment), and translocations (breaking and rejoining of genomic segments at different chromosomal locations).

Deletions, inversions, and tandem duplications are further subdivided by size using the five size ranges: 1-10Kb, 10-100Kb, 100Kb-1Mb, 1Mb-10Mb, and events larger than 10Mb. SVs are also categorised as clustered or non-clustered depending on the distance between adjacent SVs, resulting in 32 SV types in total.

These signatures were derived from an analysis of 10,731 whole genome sequenced samples provided by Genomics England, which were organised into 16 distinct tissue groupings.

Signature extraction methods

The current set of reference signatures was extracted using SigProfiler from 10,731 whole genome sequenced samples (which all had at least one SV event called) from Genomics England V11 across 16 different tissue groups. SVs were included if they were called by at least 2 out of the 3 callers, Manta, Lumpy and Delly. The mutation calling, signature extraction and analysis of samples with active signatures are described in Everall et al. 2023.

Data exported from Genomics England, including signatures, their activities across samples, and associations with clinical and genotypic variables, can be found here.

More detailed clinical data, which cannot be exported from Genomics England for identifiability reasons, can be found inside the Genomics England research environment at /re_gecip/shared_allGeCIPs/pancancer_signatures.

COSMIC mutational signatures are available in numerical form in our data downloads page.