Pan African Bioinformatics Network for H3Africa

Exome analysis using next generation sequencing (DNASeq)

Part 1: Sample Preparation and Exon Sequencing

  • Introduction to exome analysis
  • DNA sample preparation
  • Overview of next generation sequencing platforms (ABI Solid, Illumina Solexa, Life Technologies Ion Torrent and Roche 454)
  • Overview of Exone Capture kits (Agilent SureSelect, Illumina TruSeq and Nimblegen SeCan EZ)

Part 2: Sequencing Data Analysis and Interpretation

  • Overview of file formats (FASTQ, SAM/BAM, BED, GTF and VCF files)
  • Quality control of raw data
  • Mapping of sequencing data to a reference genome using BWA
  • Quality control of aligned data
  • Viewing data using IGV
  • Tools for calling SNV and Indels
  • Variant annotation (location, effect, novelty etc)
  • Analysis of affected genes (pathways, gene ontology and disease association

Course Trainers: Dr David Sims (University of Oxford) and Prof Mark Lindsay (University of Bath)

Dates and location:
Monday 8th July 2013 - IMG Training Rooms, near Liverpool Street Station, London
Cost: £295 per course (2 courses - £550)
For more information see website at www.nextgenseq.co.uk
To reserve a place email This email address is being protected from spambots. You need JavaScript enabled to view it.