Q & A on Whole Exome Sequencing

1. Q & A on Whole Exome Sequencing Many of you may be aware of exome sequencing, but there are questions that may still be perplexing. One must understand the underlying genetics and technology details about whole exome sequencing to make sense about its application. Genome or exome sequencing is relatively new yet highly popular method of genetic screening. Here we have compiled most common Q & A on exome sequencing: What Is the Purpose of Exome Sequencing? Whole exome sequencing is genetic examination that tries to trace back the genetic cause of a particular symptom or a phenotype in an individual. Whole exome sequencing screens your genes at a greater depths to identify possible causation of a symptom or symptoms that are not apparent using routine diagnostic screening. Whole exome sequencing can provide doctors greater clarity about genetic markers known to cause diseases. What kind of information can one expect to learn from Whole Exome Sequencing? Next generation sequencing techniques help to screen exome for mutations - point mutation or large insertions or deletions that can cause diseases. 85% of known genetic disorders are linked to mutations found in exomes, thus whole exome sequencing can help to determine our predisposition to genetic diseases. A number of times symptoms or diseases are diagnosed based on physical examination or history, exome sequencing can reveal presence of mutations or genetic markers that confirm a genetic disorder. These genetic markers can be autosomal dominant or recessive or X-linked. Looking from a different angle Patients with developmental delays, intellectual disabilities and neurological issues are candidates to undergo whole genome sequencing to determine precise mutations or genetic markers for personalised medication. Exome sequencing or gene mapping also helps to identify multiple related genetic issues that result into a complex and difficult to diagnose symptom.