Clinical sequencing is looming and recently I've heard more, and better, arguments for using whole genomes. These have mainly focused on the quality of PCR-free genomes, which have uniform coverage and few regions of missing or very low coverage. Compared to the PCR and hybridisation-capture artefact's in exomes, or the focus on a biased set of genes a genome can sound very convincing (especially if you ignore the analysis/storage issues). Until recently the cost has still been too high, but Illumina recently released PCR-free on X Ten reducing the cost substantially. However there are so many different arguments that it is difficult to determine if we can perform a one-size-fits-all sequencing experiment.
![](https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgSbJqleLPW21A4T84uKxvadZHFhSY5VcHAQakd3NYFR54ygJowAVqWH7r-5RDNV1IEtZL__ZhRYysFkJg1NQsP2GmV1jjmne4BJtP1-SBAv1GodvBHo2COzZAHb7VhjzLWJC55n-2kH7cJ/s1600/Screenshot+2014-12-08+12.06.26.png) |
Comparison of Illumina PCR-free to PCR+ kits |
Recently I started talking to people who use terms like analytic validity, clinical validity and clinical utility - these meant something to me, but what they meant for genome sequencing assays, exomes and amplicomes I was not so sure so I thought I'd find out.