Fig. 2: HATCHet outperforms existing methods in the inference of CNAs, their proportions, and WGDs. | Nature Communications

Fig. 2: HATCHet outperforms existing methods in the inference of CNAs, their proportions, and WGDs.

From: Accurate quantification of copy-number aberrations and whole-genome duplications in multi-sample tumor sequencing data

Fig. 2: HATCHet outperforms existing methods in the inference of CNAs, their proportions, and WGDs.The alternative text for this image may have been generated using AI.

a Average allele-specific error per genome position for the copy-number states and their proportions inferred by each method (here excluding THetA which does not infer allele-specific copy numbers) on 128 simulated tumor samples from 32 patients without a WGD, and where each method was provided with the true values of the main parameters (e.g., tumor ploidy, number of clones, and maximum copy number). HATCHet outperforms all the other methods even when it considers single samples individually (single-sample HATCHet). b Average allele-specific error per genome position on 256 simulated tumor samples from 64 patients, half with a WGD, and where each method infers all relevant parameters including tumor ploidy, number of clones, etc. HATCHet outperforms all the other methods, even when considering single samples individually (single-sample HATCHet). Box plots show the median and the interquartile range (IQR), and the whiskers denote the lowest and highest values within 1.5 times the IQR from the first and third quartiles, respectively. c Average precision and recall in the prediction of the absence of a WGD and the presence of a WGD in a sample. HATCHet is the only method with high precision and recall (>75%) in both the cases, even compared to a consensus of the other methods based on a prediction for majority. While Battenberg and Canopy underestimate the presence of WGDs (<20% and 0% recall), TITAN, ReMixT, and cloneHD overestimates the absence of WGDs (<20%,  <62%, and  <50% recall).

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