This is one of the most discussed topics especially in Clinical Genomics! Affordability, accuracy, feasibility and of course time consumption - based on these factor mostly, which sequencing technology is more suitable for clinics? Whole Exome Sequencing or Whole Genome Sequencing? (WGS or WES, WGS vs WES) So here's my 2 cents on this discussion! When it comes to DNA sequencing there has always been a raging debate over the choice of Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WXS) for routine use. Whole genome sequencing (WGS), as the name suggests is the process of obtaining the entire genome. In most cases however, this is far from practical and only 95-97% of the genome is covered because it is technically difficult to sequence certain regions of the genome (high GC content, large repeat regions, centromeres, telomeres, etc.) with existing technology. “It’s very fair to say the human genome was never fully sequenced,” - Craig Venter “The human genome ha...
What is Clinical Genomics? What's the difference between precision medicine and personalised medicine? Genomics is the study of an organism's entire genome (all the DNA for the discussion lets say)! Clinical Genomics is the study of: – the correlation between diseases and human genome – the interaction of medication and human genome – developing disease diagnostic methods from human genome - Finally - coming up with ways to treat that disease based on all this knowledge built with the help of genomics. When we think about genomics in treating a disease like cancer, we consider two aspects. First is the patient’s own genome, which is in every cell in their body. In their genome, they may have mutations that make them more susceptible to a particular type of cancer than someone who doesn’t have that particular type of mutation. For example, we know that individuals with specific inherited mutations in BRCA1 and BRCA2 genes are at a greater risk for bre...