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

 

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