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Table 2 Model input parameters

From: A method to reduce ancestry related germline false positives in tumor only somatic variant calling

Parameter

Default value or source

Description

K

3

Number of Clones

f π

0.5

Mode of prior distribution of f

α π

1.5

Determines shape of prior distribution of f

π(N = 0)…π(N = 3), π(N ≥ 4)

0.1, 0.15, 0.5, 0.15, 0.1

Copy Number Priors

π(M = 0), π(M = 1), π(M ≥ 2)

[0.25;0.5;0.25]

Minor Allele Copy Number Priors

α seg

1E-5

Segmentation significance cutoff

ω

COSMIC

Number of cancer variants observed at the position

F A , F B

1000 Genomes

Population Allele Frequencies

ρ SNV , ρ indel

1E-5, 1E-6

Constant for calculating prior somatic

F p − SNV , F p − indel

7.14E-5, 1.43E-5

Population allele frequencies assigned to alleles not seen in input population

Fmax-somatic

1E-3

Maximum population allele frequency to be considered a possible somatic variant

\( {Q}_{min}^m \)

10

Minimum mapping quality to count read

\( {Q}_{min}^b \)

5

Minimum base quality to count base

Τ PASS

0.99

Minimum posterior probability of belonging to the PASS group to be called pass

Τ Somatic

0.8

Minimum posterior probability of variant is somatic to be called somatic

Τ Germline

0.8

Minimum posterior probability of variant is germline to be called somatic

  1. Where applicable, default values were determined empirically on an independent data set