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