Conference Proceedings

Cnspectorx - Copy Number Assessment at a Genome Level from Targeted Sequence Data Optimized for Hematological Malignancy

John Markham, Satwica Yerneni, Georgina L Ryland, Andrew Fellowes, Ella Thompson, Stephen Fox, David Alan Westerman, Michael Dickinson, Anthony Papenfuss, Piers Blombery

BLOOD | AMER SOC HEMATOLOGY | Published : 2019


The detection of copy number abnormalities (CNAs) is of significant clinical relevance in hematological malignancy (e.g. TP53 CN loss in chronic lymphocytic leukemia). Whilst detection of CNAs is typically performed by FISH or SNP array, it is also possible from next generation sequencing (NGS) data. Given the rapid and global expansion of targeted sequencing for the diagnosis and management of hematological malignancy, we aimed to develop a copy number (CN) analysis tool specifically suited to reporting CN in hematological malignancy in the diagnostic laboratory. We describe CNspectorX, a comprehensive CNA solution from FASTQ to interactive whole genome CN visualization with significant adv..

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