Exome Sequencing

This popular laboratory- and computer-based training course provides a comprehensive overview of the latest principles and techniques for exome sequencing, also known as pulldown, sequence capture and targeted sequencing.
Participants will gain practical laboratory experience as well as training in downstream data analysis, interpretation and validation.

Solution hybrid capture is used to enrich for all known exon sequences (the exome) or for customised regions from genomic DNA for the purpose of sequencing the regions of interest. The enriched targets are sequenced using next generation technology to a high coverage and analysed for variants.

For comparison, the concepts for array CGH (aCGH) will be covered as an approach for analysing copy number variation.

Material to be covered will include:

Sample quality assessment and logistics
DNA fragmentation and quantification
DNA library preparation
Sequence capture
Bait design
Overview of Illumina sequencing
Sequence mapping
QC metrics
SNP/insertion/deletion calling
SNP consequence analysis
Protein impact analysis
Variant annotation
Case-only analysis
Case/control analysis
Rare SNP discovery
Copy number variation
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Course instructors
Dr Cordelia Langford (Wellcome Trust Sanger Institute, Hinxton, UK)
Dr Peter Ellis (Wellcome Trust Sanger Institute, Hinxton, UK)
Dr Robert Andrews (Wellcome Trust Sanger Institute, Hinxton, UK)
Dr Matthew Breen (North Carolina State University, USA)
Dr Audrey Hendricks (Wellcome Trust Sanger Institute, Hinxton, UK)

8 Sep - 16 Sep 2013
Cambridge
United Kingdom
meeting website