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It produces copy number calls as well as estimates for tumour ploidy and tumour cell content.

The quality of plant genome assemblies depends on genome size, ploidy, heterozygosity and sequence coverage, but most NGS-based genomes have on the order of tens of thousands of short contigs distributed in thousands of scaffolds.

For example, in the 1980s and 1990s ploidy in neuroblastoma48 and cytogenetic abnormalities in acute lymphoblastic leukaemia49 were used to determine the composition and strength of the cytotoxic chemotherapy required to treat these cancers.

Tumour ploidy and mutation rate are higher in clusters 1–3 than in clusters 4–6.

The low ploidy and low mutation rate clusters four and five contain many TRU samples, whereas tumours in cluster 6 have comparatively lower tumour cellularity, and few other distinguishing molecular features.