Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing.

ABSTRACT: Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed genome wide sequencing with the Illumina platform to test whether recurrent losses could be detected in low coverage data from DNA pools of Rb cases. An in silico reference profile for each pool was created from the human genome sequence GRCh37p5; a chromosome integrity score and a graphics 40 Kb window analysis approach, allowed us to identify with high resolution previously reported non random recurrent losses in all chromosomes of these tumors. We also found a pattern of gains and losses associated to clear

SUBMITTER: Garcia-Chequer AJ 

PROVIDER: S-EPMC4993565 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature