transcript isoforms |
sum aggregate of CDS from multiple isoforms of the same gene |
variation in mutation types |
consider 11 different mutation types |
background mutation rates |
beta prior of which is background rate of mutation type j in individual i
|
differences in background mutation rates |
estimate separate mutation rates for each individual tumor |
redundancy of the genetic code |
define and as the number of base pairs in CDS of gene k that can give rise to nonsilent and silent mutations |
multiple mutations in one gene |
addressed by the Poisson process |
sequencing coverage |
is the proportion of CDS with a minimum eight sequence coverage in both a tumor and its matched normal DNA from individual i
|
CDS size |
where L is length of CDS for gene k
|