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Whole Exome Sequencing

Whole Exome Sequencing (WES) allows for the analysis of all transcribed genes. This technique is used if Sanger Sequencing of the most common genes doesn't yield anycausative mutations. 

Through the use of this techniques we have discovered mutations in the following genes that cause adrenal insufficiency;

  • NNT
  • SGPL1
  • ABCD1
  • NROB1

While WES allows for the study of all mature mRNA it does not analyse intronic sequences and therefore any causative mutations in introns are missed. To solve this we can perform Whole Genome Sequencing (WGS). 

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