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. 2013 Sep 5;93(3):439–451. doi: 10.1016/j.ajhg.2013.07.003

Table 1.

Biological Information Is Integrated into Statistical Models

Biological Knowledge Statistical Interpretation
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 ηij which is background rate of mutation type j in individual i
differences in background mutation rates estimate separate mutation rates ηij for each individual tumor
redundancy of the genetic code define Njk and Mjk 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 cik 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 j(Njk+Mjk)=3L where L is length of CDS for gene k