Assuming bidirectional sequencing costs 13.8 $10 € €) per fragment, the cost for mutation screening in PKD1 and PKD2 with direct sequencing costs 966 $700 €70) (70 fragments).
Because the mutation rate of MMR gene is relatively low and the cost for mutation analysis is high, focusing on the diffuse type GC might be more cost-effective than mass screening for all MSI-H GC.
All previous algorithms (excluding the first algorithm by Bérard and Rivals [ 2], which had an O (n) running time and assumed a constant cost for all mutations in addition to the restrictions in [ 8]) might output non-optimal solutions in certain cases, as demonstrated in the following example.
Besides this, we have also roughly estimated the cost of mutation testing in terms of number of mutants for medium-sized AO systems [26].
However, the cost of mutation detection by DNA sequencing is high, which creates the need for adopting strategies in order to reduce cost but maintain effectiveness.
The cost of screening the population for mutations in the entire BRCA1 gene is unacceptably high.
Strategy 8 (direct mutation testing) was found to be cost-effective when the costs of mutation tests for probands were halved – this gives an indication that as costs of mutation testing decrease (including through next generation sequencing), tumour-based tests IHC, MSI and BRAF V600E may no longer be necessary for cost-effective diagnosis.
Screening of the protein encoding and exon intron boundary regions of ATR was done by conformation sensitive gel electrophoresis (CSGE), which is a cost-efficient way to scan for mutations with high detection sensitivity and specificity [ 24, 25], or by direct sequencing.
"At a certain point, there's a fitness cost for adopting a new mutation, so the virus says, 'What else can I do?' " says Nabel.
However, comparison of fitness between in vitro rpoB mutants showed that W-Beijing and non-W-Beijing strains had similar biological cost for the same rpoB mutation [10].
