Wellcome Trust Course: Exome Sequencing

 

Course - Hinxton, Cambridge, United Kingdom

 

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 variant calling, quality control, and association analysis.

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 somatic DNA copy number variation, along with a broader overview of comparative genomics approaches. Preliminary analysis will take the form of mapping sequence to the reference and calculating quality metrics informing on sequence and mapping quality.Variants (SNPs, INDELs) will be called from the mapped data

With increased use of analytical methods using DNA isolated from formalin fixed clinical samples, attention will be paid to the consequences of sample processing, including duration of exposure to formalin fixation.
Programme

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
• Impact of formalin fixation on data quality ofexome seqeuncing and CGH analysis
• Overview of comparative genomics approaches

Organization: Wellcome Trust

 

 

If you'd like to ask a question or post a comment about this talk please do so below.