Lecture

Exome sequencing and analysis

Aims

• To demonstrate the application of bioinformatics analyis methods within a scientific project.
• To cover some of the material left over from the last lecture.

Supplementary Material

This lecture features work described in:

• Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol, 74, 914-919
  doi:10.1002/ana.23963
  Supporting Information (local access)

The lecture slides are available on-line (one per page, updated 2014-02-24).