Clinical Edge

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Whole-genome sequencing demonstrates clinical relevance

Key clinical point: Whole-genome sequencing (WGS) appears capable of replacing cytogenetic testing for the detection of molecular abnormalities in hematologic malignancies.

Major finding: For detection of clinically significant structural variants (SVs) and copy number variants (CNVs) in hematological malignancies, WGS had a false positive rate of less than 5% and a positive percentage agreement with fluorescence in situ hybridization (FISH) that exceeded 90%.

Study details: A comparison of results from the Genomics England somatic SVs/CNVs WGS pipeline, with results from three separate clinical diagnostic laboratories using different FISH tests on hematological tumors.

Disclosures: The study was sponsored by NHS England. The investigators reported having no conflicts of interest.


Henderson S et al. BSH 2019, Abstract OR-002.