Analysis of Next Generation DNA sequencing data


The use of Next-Generation Sequencing (NGS) technologies for the analysis of rare diseases has become a frequent practice given the resolution of the technique, which permits the identification of unknown genomic variability related with a particular disease. For the successful identification and characterization of such variants, the analysis process must be addressed accurately taking into account several important details about the methodologies.


Course description

This is a five hour theoretical and practical introductory course on the analysis of Next Generation DNA Sequencing data organized by the Neurosensorial Investigation program of the CIBERER / BIER Platform.

The course is oriented to experimentalists, end-users and PhD students who want to learn about the state-of-the-art in genomic data analysis methodologies in this fast developing area of genomics. It will cover the following topics:

  • Introduction to NGS Technologies for Variation Studies
  • Quality Control for NGS Raw Data
  • Mapping NGS Reads for Genomic Studies
  • Quality control for Mapping
  • Visualization of mapped reads
  • Variant Calling SNPs and INDELS
  • Variant Annotation
  • Variant Prioritization


Course web site and materials



Marta Bleda
Joaquín Dopazo


Thu, 28/11/2013 - 15:00 - 20:00
IIS-Fundación Jiménez Díaz-CIBERER, Madrid