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Graham Speight, Ezam Uddin, Aysel Heckel, Venu Pullabhatla, James Reid and Lyudmila Georgieva



A wide variety of chromosomal abnormalities are associated with Chronic Lymphocytic Leukaemia (CLL). Currently, comprehensive genetic research into CLL requires multiple testing strategies with high associated costs.

Somatic mutations (Single Nucleotide Variants (SNVs) and insertion/deletions (indels)) can be identified by next generation sequencing (NGS), but copy number alterations (CNAs) currently require additional cytogenetic methods including karyotyping, fluorescence in situ hybridisation (FISH) and microarrays. For a more complete picture, follow-up assays are required to determine the trigger(s) behind the malignant transformation and to characterise the genetic profile to aid research into prognosis and disease management.

In this study, we tested the capability of SureSeq™ NGS panel to overcome the challenges with detecting CNAs currently experienced and provide a possible future single test to be developed for CLL.

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