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Table 3 Other model parameters and variables

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

Variable

Descriptions

Inputs to model

 RT, RB

Total read depth, B allele read depth

 πS, πAB, πAA

prior probability of somatic, germline heterozygous, germline homozygous variant

  \( {Q}_A^m,{Q}_B^m \)

Mean mapping quality of reads supporting the A or B allele

  \( {Q}_B^b \)

Mean base quality of bases supporting B allele

 X

Total number of exons,

 Y

Number of heterozygous germline variants

 Z

Number of somatic variants

 G

Number of segments

Parameters fit in maximization

 fi

fraction of cells in the sample with the variants in clone i

 C

centering parameter

 W

controls the spread of the allelic fraction distributions

Intermediate variables

 N

total copy number

 M

minor allele copy number

 ϕS, ϕG

expected allele fraction of somatic or germline variant

 IS, Ij

Index of clonal subset containing somatic variant or copy number variant

 Q*

Number of copy number altered exons

Other notation

 GAA, GAB

Germline homozygous or heterozygous genotype

 O

Other genotype beside somatic, germline homozygous AA, or germline heterozygous AB

 U

Unknown genotype due to poor mapping

 i

Index of clonal subset {1, 2, ..., K}

 j

Index of segment {1, 2, …, G}

 s

Index of somatic variant {1, 2, …, Z}

 h

Index of heterozygous variant {1, 2, …, Y}

 n

Index of exon {1, 2, …, X}

  1. Key to notation used in describing model