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Table 1 Reliability assessment metrics for copy number profiles. Eight qualitative combinations lead to five reliability cases

From: CNARA: reliability assessment for genomic copy number profiles

Case No.

S peak

Wave density

σ

Assessment

  

(l and v)

  

1

high

high

high

hyper-segmented, discernible CNAs with some waves

 

high

high

low

 

2

high

low

high

reliable, discernible CNAs with few waves

 

high

low

low

 

3

low

high

high

unreliable, indiscernible CNAs with heavy waves

 

low

high

low

 

4

low

low

high

unreliable, large DLRS

5

low

low

low

reliable, control sample or without many CNAs

  1. S peak quantifies how much the copy number data is step-like; Wave density depends on two features l and v, where l is the number of steps recovered by step-fitting in the copy number profile and v is the number of change-points detected by CBS which could be induced by both CNAs and wave artefacts; And σ is the mean of DLRS within segments