Question

Whole genome sequencing has only been used for basic research – it has not yet been used to diagnose a disorder.

True

False

Answer 1

The following statement is false. Whole genome sequencing has been used in establishling the mutation frequencies across human genomes. This is with special reference to cancer, where the mutation frequencies are much more higher. Further, it has been found with the help of whole genome sequencing as to how the mutation frequencies vary among diffrent kinds of cancer.As for example, in germline cells, mutations occur at the rate of 0.023 per megabase while in case of lung cancer, it istands at 17.7 mutations per megabase.

Genome wide association studies attempts to identify the genetic variants associated with a particular disease.

Newborn screening with this approach allows detection of rare disorders of children at their early age which could then be treated at an early age.

So, whole genome sequencing is also used to diagnose a disorder.