These substitutions were incorporated into every variant in round 3 and are present in the most active variants.
The aims of CSN are a) to provide a fixed, standardized system in which every variant has a single notation, b) to be identical for all mutation detection methods, c) to use a logical terminology understandable to non-experts, and d) to provide a nomenclature that allows easy visual discrimination between the major classes of variant in clinical genomics.
In each tumour, every variant is analyzed by checking the informative sequencing reads from the corresponding RNA-Seq experiment for non-constitutive splice isoforms, and comparing these results with the same type of data from all other tumour and normal samples that do not carry the variant in their exomes.
Whole-genome sequencing allows for the potential identification of every variant in the genome.
These studies will potentially identify every variant in an individual, from single base point mutations to large chromosomal abnormalities.
The CASM approach allows VAAST to score every variant in the genome, and to employ phylogenetic conservation information at the same time.
However, in practice, this has been a rare occurrence; for the majority of our exome sequencing cases, the original proband is the only family member tested, which also argues against the need to have a pair of Sanger sequencing primers available in the lab for every variant detected.
In the nested logit model every single car sale is regarded as a discrete choice where, in principle, every model variant available in the market at that time is included in the buyers' choice set.
This is the second Escape generation offered in a hybrid setup, but the first with a plug-in variant.
We have argued that the data are consistent with a model in which essentially every regulatory variant in disease-relevant cell types can affect risk, and proposed that most of these effects act through trans-regulatory networks.
