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} |