Introduction to genome variation analysis using NGS

Prerequisites

This course provides an introduction to the analysis of human genome sequence variation with next generation sequencing data (NGS), including:

• an introduction to genetic variation as well as data formats and analysis workflows commonly used in NGS data analysis;
• an overview of available analytical tools and discussion of their limitations; and
• hands-on experience with common computational workflows for analysing genome sequence variation using bioinformatics and computational genomics approaches.

A draft agenda can be found here

Please note that if you are not eligible for a University of Cambridge Raven account you will need to Book or register Interest by linking here.

• Graduate students, Postdocs and Staff members from the University of Cambridge, Affiliated Institutions and other external Institutions or individuals
• Further details regarding eligibility criteria are available here
• Further details regarding the charging policy are available here

• Basic experience of command line UNIX
• Sufficient UNIX experience might be obtained from one of the many UNIX tutorials available online.

Number of sessions: 2

• Introduction to genome variation
• Experimental design
• Genome sequence alignment
• Data quality assessment
• Variant calling
• Variant filtering, effect prediction and prioritisation
• Genome-wide association

• To familiarise the participants with NGS data analysis methodologies for variant detection
• To provide hands-on training on the latest variant analysis analytical approaches.

Presentations, demonstrations and practicals

2

A number of times per year

• Variant Analysis with GATK