Course summary

This new course provides a comprehensive overview of 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.

Course programme

Material 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
case/control analysis
rare SNP discovery
copy number variation.

Teaching will be complemented by opportunities to interact with academic and technical experts working at the cutting edge of the field.

Guest speakers TBC shortly