The Genomic Data Analysis Centre

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Through funding from the Chief Scientist Office, the Centre is participating in an NHS Scotland programme to conduct trio whole exome sequencing for families with a child with a developmental disorder:

1. Doctors refer their patient and their family to the NHS Clinical Genetics Service, which takes blood samples from the patient and their parents.  
2. DNA is extracted from the blood samples and the gene coding regions of all three family members are sequenced at Edinburgh Genomics.  
3. The resulting data is transferred to the Edinburgh Parallel Computing Centre to be analysed by the Genomic Data Analysis Centre at the IGC.  
4. The analysis produces a list of candidate genetic variants which are sent back to the NHS Clinical Genetics Service for assessment and confirmation.

The NHS Clinical Genetics Service returns a diagnostic report for the doctor to discuss with the patient and their family, helping them understand their diagnosis and its genetic cause.

For advice and training on the computational tools and collaborative expertise at IGC, visit the Bioinformatics Analysis Core.

Contact

For more information on the services provided within the facility, please contact:  Dr. Jing Su (jing.su@ed.ac.uk)