Figure 1.
Idealized cancer analysis pipeline.
The column on the left shows a list of sequential steps. The columns on the right show the bioinformatics and molecular biology disciplines involved at each step, the types of techniques employed and some of the current challenges faced.
Figure 2.
Main tasks in an analysis pipeline.
Starting with the patient information derived from NGS experiments, the variants are mapped between genes and proteins, evaluated for pathogenicity, considered systemically through functional analysis, and the resulting conclusions translated into actionable results.
Table 1.
Selection of the software packages used in cancer genome analysis.
Table 2.
Selection of databases commonly used in our workflows.
Table 3.
Types of third party software and their general characteristics.