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Mon 18 Apr - Tue 19 Apr 2016
09:30 - 17:30

Venue: Bioinformatics Training Room, Craik-Marshall Building

Provided by: Bioinformatics


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Introduction to genome variation analysis using NGS

Mon 18 Apr - Tue 19 Apr 2016


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.

Target audience
  • 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

# Date Time Venue Trainers
1 Mon 18 Apr 2016   09:30 - 17:30 09:30 - 17:30 Bioinformatics Training Room, Craik-Marshall Building map Matthias Haimel,  Dr Stefan Gräf
2 Tue 19 Apr 2016   09:30 - 17:30 09:30 - 17:30 Bioinformatics Training Room, Craik-Marshall Building map Matthias Haimel,  Dr Stefan Gräf
Topics covered
  • 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




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