Monday, April 2, 2012

Whole Exome OR Hole Exome?? education is essential

I had been to the annual ACMG (now ACMGG) conference recently and its all been about whole exome sequencing. Everyone is talking about whole exome sequencing and its potential. But one thing is to be understood, especially by the public that whole exome is still not whole exome. Many genes and exons cannot still be captured and sequenced even by the latest and greatest technology. Lots of false positives and false negatives show up through the assay and I am really surprised how it is being offered as a clinical diagnostic test in some of the labs in the country. I myself have been analyzing whole exomes and has still been a big challenge even in research labs, forget about clinical labs. So please be educated well, before you start opting the test or even supporting the idea.

No comments:

Post a Comment