Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

ABSTRACT:

Background

The spectrum of RB1gene mutations in Retinoblastoma (RB) patients and the necessity of multiple traditional methods for complete variant analysis make the molecular diagnosis a cumbersome, labor-intensive and time-consuming process. Here, we have used targeted next generation sequencing (NGS) approach with in-house analysis pipeline to explore its potential for the molecular diagnosis of RB.

Methods

Thirty-three patients with RB and their family members were selected randomly. DNA from patient blood and/or tumor was used for RB1 gene targeted sequencing. The raw reads were obtained from Illumina Miseq. An in-house bioinformatics pipeline was developed to detect both single nucleotide variants (SNVs) and small insertions/deletions (InDels) and to distinguish betwee

SUBMITTER: Devarajan B 

PROVIDER: S-EPMC4415345 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature