Table 3.
Parameters and notation.
| Variable | Descriptions |
|---|---|
| INPUTS TO MODEL | |
| RT, RB | Total tumor read depth, B allele read depth |
| RC | Mean read depth of unmatched normals |
| πS, πAB, πAA | prior probability of somatic, germline heterozygous, germline homozygous variant |
| Mean mapping quality of reads supporting the A or B allele | |
| 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 |
| K | Number of clonal variant groups |
| J | Number of samples from the patient |
| ηg | Number of bases within the bed file in segment g |
| ηd | Number of bases within the bed file with min (F A, F B) > Fmax−somatic |
| PARAMETERS FIT IN MAXIMIZATION | |
| fjk | fraction of cells in the sample j with the variants in clone k |
| 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 |
| A | Allele of somatic variant (A = 1 for allele A = 2 for minor allele) |
| XCNA | 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 |
| k | Index of clonal subset {1, 2, …, K} |
| g | Index of segment {1, 2, …, G} |
| z | Index of somatic variant {1, 2, …, Z} |
| y | Index of heterozygous variant {1, 2, …, Y} |
| x | Index of exon {1, 2, …, X} |