Fig 1.

Categories of genomic alterations and technologies for detection. Many of the hallmark alterations in cancer are currently detected by using a multitude of existing technologies, often in a serial fashion, each using an appreciable amount of nucleic acid. Newer sequencing-based methodologies are capable of interrogating many types of cancer alterations in one composite, sensitive test. CGH, comparative genomic hybridization; ChIP-Seq, chromatin immunoprecipitation followed by massively parallel sequencing; FISH, fluorescent in situ hybridization; IHC, immunohistochemistry; PCR, polymerase chain reaction; RNA-Seq, RNA sequencing, also known as transcriptome sequencing; SNP, single nucleotide polymorphism; Targ-Seq, targeted sequencing; WES, whole-exome sequencing; WGS, whole-genome sequencing.