COURSES@CRG: Analysis of Exome-Sequencing Data for Clinical Applications

This course is mainly addressed to medical doctors and clinical researchers with basic training in the analysis of Next Generation Sequencing data, with a focus on Exome-sequencing analysis for clinical applications, but is not addressed to expert bioinformaticians.

The course will give an overview on the Exome-seq method and widely used computational analysis tools. We will discuss practical examples of Exome-seq application for identification of causal variants and genes in Mendelian and complex diseases as well as identification of driver genes in cancer. Practical work will focus on the analysis of Illumina sequencing data, starting from basic operation like viewing the sequence reads and quality control to comparison of sequences to the human reference, variant detection and finally pinpointing of potential target genes. We will analyze two clinical cases, a familial cardio-vascular disease and parent-child trio with child affected by mental retardation. 

 

Duration of course: 4 days (Monday to Thursday from 4pm to 8pm)

Instructors

 

  

 

We only accept online registration. The number of participants is limited to 20. Registration is now closed.
General registration fee:

Registration includes participation in workshop, all the necessary tools to follow the course, didactic material, and coffee breaks

CRG (PRBB-Building)
Dr. Aiguader 88
08003 Barcelona
Spain
How to get to the CRG?
 

Eva Navarrete
CRG - Centre for Genomic Regulation
Dr. Aiguader, 88
08003 Barcelona, Spain
Tel.: +34 93 316 03 75
 
 
Supported by:
We acknowledge support from the Spanish Ministry of Economy and Competitiveness, ‘Centro de Excelencia Severo Ochoa 2013-2017’, SEV-2012-0208.