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} |