The advent of the new technologies of the genomic age has accelerated the identification of genetic variants, both in the germline and in somatic cells, which can confer susceptibility to specific cancers and, more importantly, drive cancer progression. A major problem lies in sifting through dense data sets to find the key alterations, which provide insight into the underlying cancer and possibly lead to new targets for therapy. The introduction of massively parallel sequencing technologies has shifted the discovery paradigm from a focused hypothesis-driven approach to large surveys of genomic features-now including almost complete profiles of coding regions (known as exomes), RNA-transcripts, and whole-genome sequencing of DNA. Analysis has shifted from validating a specific hypothesis to "covering the waterfront" with many possible genetic alterations, which have to be filtered and interpreted.
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