Identification of recurrent chromosomal rearrangements or translocations is critically important for the diagnosis and prognosis of both hematologic malignancies and solid tumors. In the clinical laboratory setting, detection of rearrangements is typically performed by routine cytogenetics or interphase/metaphase fluorescence in situ hybridization (FISH). However, next-generation sequencing (NGS)-based methods are also capable of detecting chromosomal rearrangements in both the clinical and research settings. This chapter will introduce NGS methods to detect recurrent rearrangements from whole genome sequencing data, targeted sequencing data, and RNA sequencing data. It will review various basic approaches including discordant paired-end and single-end (split-end) read mapping and associated informatic tools for translocation detection. Further emphasis will be placed on the clinical performance of such tools including the sensitivity and specificity of rearrangement detection from targeted DNA sequencing data.
|Title of host publication||Clinical Genomics|
|Number of pages||14|
|State||Published - Jan 1 2015|
- Next-generation sequencing