Genotyping, epigenetic and DNA/RNA-protein interaction methods


Variations in the DNA sequence such as copy number variations, insertions, deletions and SNPs are referred to as the genotype of the sample and can be detected using (14,15):

  1. Comparative genome hybridisation – Both the test and a well-characterised reference sample are hybridised to the same microarray and the relative intensity between the two samples is used to infer copy number variation.
  2. Whole genome sequencing – The genome of the test sample is sequenced and computationally compared to a reference genome to identify many types of genetic variation.
  3. Exome sequencing – Uses sequence-specific probes in solution or fixed to microarrays to purify coding regions of the DNA. These regions are then amplified, sequenced and compared to a reference to identify variations in coding regions.