Samples, analysis and data capture
Whole genome sequencing in family trios in which there are no affected individuals apart from the young proband is a novel area of investigation. You can learn more about the scientific methodology of SCOTTY here. Alternatively, you may contact a member of our study team at scottystudy@ed.ac.uk.
Sample requirements
- Blood for DNA, PBMCs and plasma from proband and both parents
- Co-variates for proband and parents (eg gender, age, aspirin, height/weight
- Access to original hospital records where feasible
- Rectal biopsy taken for rectal mucosa, stored in RNA later or frozen (-80°C).
Sequencing and analysis
- Paternity testing will be conducted before WGS
- Gene panels (Illumina TruSeq) will be conducted on case if not already screened by RGCs
- Control datasets to interpret any recurrent mutations
- various UK/Scottish control datasets eg LBC, GS, !KG, UK10K, others through collaborations
- ExAC database