Monthly Archives: July 2012

A number for every Wang?

I apologize for the title of this post, for several funny reasons. On a serious note, what if you are a Wang or Zhu or even a Johnson and you want to be recognized for your scientific contributions? Right now it’s a little difficult to stand out from the crowd of Smiths, but if the Open Researcher and Contributor ID (ORCID) committee has any say every author of peer reviewed research will have an accession number attached to their identity.

Imagine if we still searched for DNA sequences by gene name? What if your gene has multiple isoforms? What if it is a member of a family? What species are you looking for? Accession numbers are already attached to genes, proteins, and even academic research articles (see DOI). I am fully in support of this type of project, and cannot wait to get my ORCID. Now I can finally distance myself all those doppelgängers.

F1000 Research first articles appear online

Faculty of 1000 Research recently announced they were almost ready to publish their first articles, and they weren’t kidding. Today marks the publication of its first three papers. Of particular interest to me is a simple benchmark of most modern NGS aligners, with a focus on predictive power to sensitively detect clinically relevant mutations in the BRCA1 gene. Also of interest is an analysis of publicly available methods to interpret direct-to-consumer SNP array data (think 23andMe) and exome sequence from a two-generation pedigree. One disappointing note – the widget F1000 is using for data viewing is silently blocked behind the firewall where I work.

EDIT: the admin for the widget has contacted me, and says they will be working to fix the blocking issue. I think it’s great that F1000 Research is trying to integrate data access into the journal articles.

More affordable diploid human genome sequences are on the way

Did you know that most human genome sequencing currently discards information from half of your genome? Really, it does. We each have two copies of a human genome – one from mom and one from dad. In cancer cells, it is sometimes important to know whether the two critical mutations in a tumor suppressor are located in the same copy of the gene (resulting in a proliferating cell), or on opposite copies (increasing your risk of developing this type of cancer). A recent Nature paper describes new methods able to phase haplotype information for an entire human genome resequencing project. Moreover, this method only uses 100 picograms of genomic DNA. If you are wondering how many copies of the human genome that corresponds to, the authors kindly put that information in the title: “Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells“. The method is truly novel, and to achieve this feat whole genome amplification was used. As a side effect of the method, since every fragment of DNA is sequenced on average 10 to 40 times more than usual, error rates are also extremely low. Continue reading

F1000 Research soon publishing pre-review research articles

In a blog post titled “We are almost there!” at the Faculty of 1000 Research site, Rebecca Lawrence writes about the details of the new journal’s first research articles. Specifically, there are a few points that clarify the journal’s policies regarding citations and retractions. Regarding indexing in search engines such as Google Scholar and Pubmed:

“that articles will be indexed at the point at which they have received two or more positive reviews.  If an article fails to achieve this, it will not be indexed.”

This is a reasonable policy, and should quiet most of the concerns about propagating low quality, unreviewed research. What happens if you accidentally cite an article and then it changes drastically?:

“…we have finalised our novel approach to article citation, which will handle the complexities of citing an article that will be in an evolving state of refereeing over time.”

This is a bit vague still, but I am assuming that citing an F1000R article will be a bit like citing the version of a software package. A “pre-release” version of the article might look something like “Shirley et al. 2011a.1″ to denote that the paper you have referenced is unreviewed (“version alpha”), and only exists in one version. Subsequent edits could move the paper toward 2011a.2, for quick changes before it is reviewed, and eventually toward beta and then final versions after there are sufficient reviews. The beta versions of the article would be indexed in search engines, and papers that make it to a final version would demonstrate integrity, since they receive critical positive review.

Update: F1000R has released the full specification for their citation format:

Smith A, Jones B
This is a very interesting article [v3; ref status: Indexed,http://f1000r.es/123456]
F1000 Research 2012, 1: 23, DOI: 10.3410/f1000research.1-23.v3

If the article has not received two or more positive reviews, it will be cited with ref status: Approved X, Not Approved Y where X and Y are the number of positive and negative peer reviews.

Maryland loses its cool over response to power outages

Over the past week, it’s been routine to drive around Baltimore and find that either the building at your destination has no power (I’m looking at you, McDonald’s on Falls Road), has power, but is overcrowded and hot because everyone in Baltimore is there, or is just closed because everyone is freaking out that they don’t have power or A/C. Steven Salzberg, Hopkins’s resident genomics expert and frequent Forbes columnist, makes some great points about the public vs. private costs of our failing infrastructure:

 So yes, it is too expensive for the power company to put lines underground, so they will never, ever do it.  Not on their own dime, that is. Local governments won’t solve it either: they are just too small and too poor.  We need a national effort to put our valuable, all-too-vulnerable power and communications lines underground – everywhere.

If it would mean less future weeks without internet access or air conditioning, I would gladly pay a tax over the next decade to support the modernization of our electrical infrastructure. I know one person that had solar panels on his house before the storm hit. You would think that he was basking in high efficiency climate control during the day, but you would be wrong. Apparently, even solar power generated on your own roof ties in to the local power grid, meaning that he was unable to use any of the electricity his solar panels were generating.

Edit: Also there’s this.

 

Noninvasive fetal DNA sequencing from mom’s blood

There have been quite a few publications recently that detail methods that may currently be used to isolate and sequence fetal DNA from circulating maternal blood plasma. This is quite and achievement, and represents a vast improvement over previous methods for fetal genetic testing which typically involve extracting a few milliliters of amniotic fluid through a large needle inserted through the abdomen wall and through the uterus (ouch!).  Continue reading

Affordable poster printing

A couple of months ago, I was exploring internet – based poster printing companies, and discovered that the quality and price varies widely. It was tempting to just go with our local University printing service ($300 per poster for full color), but I decided to give PrintingForLess.com a try. Based on user reviews, it seemed like this was one of the best online printing companies right now, which turned out to be completely true. The print quality is excellent, turn-around time is second to none (possibly better than a local company, at around four days), and the service agents actually proof your work and contact you to make sure everything will look perfect. They offer $40 off your first order with no minimum. I’ve recently ordered some free business cards, but you could just as easily apply it toward a poster (starting at around $100, including shipping) for your next poster session or conference. Just enter the coupon code RP1G5RD3N at checkout. For a grad student on a budget, PFL were a godsend.

Continue reading