Telomere fusions associate with coding sequence and copy number alterations, driving genome complexity in chronic lymphocytic leukaemia - Raw sequence reads. Homo sapiens

Short dysfunctional telomeres are detected prior to clinical progression in chronic lymphocytic leukaemia (CLL) and can result in chromosomal fusions that propagate genome instability, driving disease progression. To investigate the impact of telomere dysfunction on the evolving CLL genome, we performed a large-scale high-resolution characterisation of telomere fusion events amplified from CLL B-cells. Illumina HiSeq paired-end sequencing of 914 unique telomere fusions identified both intra- and inter-chromosomal recombinations, as well as non-telomeric genomic loci fused with dysfunctional telomeres. These data illustrate the role that telomere dysfunction and fusion play in shaping the CLL genome; fusions drive the genetic variation that underpins intra-tumour heterogeneity and facilitate clonal evolution and tumour progression.