WIKIMEDIA, GEORGE GASTINTwo recent initiatives promise to deliver much-needed standards for the genomics community. Last year, the National Institute of Standards and Technology launched Genome in a Bottle, a public-private consortium to develop reference materials for human genome sequencing. And just recently, scientists from more than 70 institutions announced the Global Alliance, a group calling for data-sharing and open technology standards for genome analysis.
The timing of these new efforts is no coincidence. As genome sequencing makes its steady march toward mainstream utility in the clinic, scientists, bioinformaticians, and physicians alike are realizing the need for more stringent standards that will enable straightforward comparisons of data from one lab to the next. I commend both of these new groups for the critical guidelines they aim to establish.
Now that we as an industry are having these conversations, it is worth remembering that genome sequencing involves more than a sample, a sequencer, and a variant caller. We can standardize the quality of the DNA sample we start with as well as the analytical tools we use, but that still leaves a host of opportunities to introduce variability in the pipeline ...
