Article
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.
BMC cancer - 28 Apr 2015
Devarajan Bharanidharan, Prakash Logambiga, Kannan Thirumalai Raj, Abraham Aloysius A, Kim Usha, Muthukkaruppan Veerappan, Vanniarajan Ayyasamy
Abstract excerpt
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:...
Topics
- Child
- Child, Preschool
- Computational Biology
- DNA Copy Number Variations
- Female
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Pathology, Molecular
- Retinoblastoma
- Retinoblastoma Protein