Welcome Trust Sanger Institute Misleads Public About Junk DNA

Khurana er al. (2013) have just published a nice paper in Science where they analyzed 1009 human genomes in order to detect variants that might be linked to certain diseases (especially cancer). They focused on noncoding regions since it is much harder to recognize mutations in regulatory regions and these are leading candidates for cancer-causing mutations. What they did was identify conserved sequences and look for variants withing those presumptive regulatory sequences.

There's nothing in the paper about junk DNA and nothing about the overall organization of the human genome. Indeed, the tone of the paper is exactly what you would expect from a group of scientists who know that parts of noncoding DNA are involved in gene regulation.

But here's what the press release from the Welcome Trust Sanger Institute says [New technique identifies novel class of cancer's drivers].

Sieving through 'junk' DNA reveals disease-causing genetic mutations

Researchers can now identify DNA regions within non-coding DNA, the major part of the genome that is not translated into a protein, where mutations can cause diseases such as cancer.

Their approach reveals many potential genetic variants within non-coding DNA that drive the development of a variety of different cancers. This approach has great potential to find other disease-causing variants.

Unlike the coding region of the genome where our 23,000 protein-coding genes lie, the non-coding region - which makes up 98% of our genome - is poorly understood. Recent studies have emphasised the biological value of the non-coding regions, previously considered 'junk' DNA, in the regulation of proteins. This new information provides a starting point for researchers to sieve through the non-coding regions and identify the most functionally important regions.

Here's a few facts that you need to keep in mind.

1. In spite of what the press release says, we understand a great deal about the 98% of our genome that doesn't encode protein.
2. We've known about regulatory regions for half a century. It's simply not correct to imply that our knowledge is "recent."
3. No knowledgeable scientist ever said that all non-coding regions were junk in spite of what the press release says.
4. The paper does not provide a "starting point" to identify functionally important regions. We already have a pretty good idea about which parts of the noncoding genome are functional and which parts aren't.

How are we going to put a stop to this kind of misleading press release? Should we blame the authors of the paper and hold them accountable for any misrepresentations of their data by the universities, institutes, and companies that employ them?

Note: It took the IDiots less than 24 hours to exploit the stupidity of the Welcome Trust Sanger Institute. See: Helpful for non-Darwinists: Uses of junk DNA.

---

Khurana, E., Fu, Y., Colonna, V., Mu, X.J. et al. (2013) Integrative annotation of variants from 1,092 humans: application to cancer genomics. Science 2013 [doi: 10.1126/science.1235587]