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Explore the substitution, insertion/deletion and rearrangement mutational signatures found in more than 3,000 whole-genome-sequenced cancer samples and in hundreds of isogenic cell-based experiments involving exposures to environmental mutagens and DNA repair/replication gene knockouts.

Cancer

We extracted substitution and rearrangement signatures from 3,107 cancer samples generated by the International Cancer Genome Consortium.

Signatures were extracted independently for each organ of origin and then clustered to form a set of reference signatures. This updated framework for signature extraction highlights signature variability across organs, and leverages the organ-specificity of signatures for improved fitting.

Environmental Mutagenesis

Human IPS cells were exposed to 79 separate environmental mutagens, yielding 54 substitution and 11 indel signatures.

Human cancers are noisy experimental systems where the final mutational profiles are made up of many signatures arising from different processes. This experiment sought to examine the signatures associated with a selection of environmental mutagens under highly-controlled conditions.

Gene Edits

9 genes relating to DNA repair were knocked out using CRISPR-Cas9 technology in Human HAP-1 cells.

Human cancers are noisy experimental systems where the final mutational profiles are made up of many signatures arising from different processes. This experiment sought to examine the signatures associated with knockouts of a selection of genes related to DNA repair/replication under highly-controlled conditions.