Back from the dead…time for a new JABBA award!

jabba logo.png

I really wasn't intending to hand out any more JABBA awards. The last time I gave out an award for a bogus bioinformatics acronym was back in February 2016 and that was meant to be that.

However, I recently saw something that sent a shiver down my spine and I felt obliged to dust off the JABBA award one more time (for now anyway).

Let's get straight to the point. Published in bioarXiv is a new preprint:

Now don't get me wrong, I love burritos and I think it's kind of a fun name for a piece of software. I just happen to think that in this case it is a somewhat tenuous acronym. So how do you get to make BURRITO the name of your tool?

Browser Utility for Relating micRobiome Information on Taxonomy and functiOn

It's the inclusion of 'O' from 'functiOn' that gets me.I guess 'BURMITF' didn't have such a good ring to it.

What else is on the menu?

Note that BURRITO shouldn't be confused with the QIIME application controller code called burrito-fillings or the electronic lab notebook software for computational researchers known as Burrito.

Also, you get bonus points if you can use BURRITO with SALSA. Of course, if BURRITO doesn't work out for you, then maybe try TACO or…er, TACO.

How and why the Institute of Cancer Research are using their new Illumina NovaSeq →

Image credit: The Institute of Cancer Research, London

Image credit: The Institute of Cancer Research, London

Yesterday, the The Institute of Cancer Research — disclaimer: that's where I work — published a new blog post where they spoke to Nik Matthews, Genomics Manager in the ICR’s Tumour Profiling Unit, about the Illumina NovaSeq sequencing platform.

It's a little more technical than some of the ICR 'Science Talk' blog posts that we usually publish which is why I thought I'd link to it here.

As someone who was started their PhD around the time the yeast genome was being finished I still am shocked by how far the world of DNA sequencing has come. This is something Nik refers to in his opening answer:

We can now produce data equivalent to the size of the original human genome project every six minutes, which is astonishing.

By comparison, the yeast genome project — an international collaboration involving many different labs — took over five years to sequence its genome…all 12 Mbp of it! Read the full blog post to find out more about how, and why, the ICR adopted the NovaSeq platform:

Bioinformatics blogs →

I was surprised to see this blog featured in a recent list of the Top 75 Bioinformatics Blogs and Websites for Bioinformaticians.

Any list that includes this blog — which I barely ever update these days — feels a little bit dubious, especially when I'm listed above some genuinely useful blogs.

Anyway, there are many genuinely useful blogs on this list so I recommend having a look at it. I also made an attempt a few years at listing some of my own favourite bioinformatics blogs…a list which seems to remain relevant.

Illumina's new NovaSeq platform unveiled at The Institute of Cancer Research, London →

Dr Nik Matthews, Genomics Manager in the ICR's Tumour Profiling Unit. Credit: ICR

Dr Nik Matthews, Genomics Manager in the ICR's Tumour Profiling Unit. Credit: ICR

It feels a bit strange to be using this blog to link to a news post at my current employer, but I'm happy to share the news that the ICR has become the first organisation in the UK to deploy Illumina's NovaSeq platform.

The ICR's Dr Chris Lord, Deputy Director of the Breast Cancer Now Research Centre, had this to say:

One key area we are keen to use the NovaSeq sequencer for is to discover new ways to select the best available treatment for each individual cancer patient’s specific disease.

If we can do this, we should be able to improve how a significant number of patients are treated. With the NovaSeq system, this kind of work is now feasible – this will be a real game-changer for a lot of the work across the ICR.

Read more in the full news article on the ICR website:

Chromosome-Scale Scaffolds And The State of Genome Assembly →

Keith Robison has written another fantastic post on his Omics! Omics! blog which is a great read for two reasons.

First he looks at the issues regarding chromosome-size scaffolds that can now be produced with Hi-C sequencing approches. He then goes on to provide a brilliant overview of what the latest sequencing and mapping technologies mean for the field of genome assembly:

For high quality de novo genomes, the technology options appear to be converging for the moment on five basic technologies which can be mixed-and-matched.

  • Hi-C (in vitro or in vivo)
  • Rapid Physical Maps (BioNano Genomics)
  • Linked Reads (10X, iGenomX)
  • Oxford Nanopore
  • Pacific Biosciences
  • vanilla Illumina paired end

This second section should be required reading for anyone interested in genome assembly, particularly if you've been away for the field for a while.

Read the post: Chromosome-Scale Scaffolds And The State of Genome Assembly

What did I learn at the Festival of Genomics conference? →

Last week I attended the excellent Festival of Genomics conference in London, organised by Front Line Genomics. This was the first time I had been to a conference as a communications person rather than as a scientist…something that felt quite strange.

In addition to live-tweeting many talks for The Institute of Cancer Research where I work, I also recorded some videos of ICR scientists on the conference floor. All were asked to respond to the same simple question: Why is genomics important for cancer research?. You can see the video responses on the ICR's YouTube channel.

I also made a very short video to highlight one unusual aspect of the conference…the talks were pretty much silent. Wireless headphones worn by all audience members meant that there was no need to amplify the speakers…and therefore no need for the four different 'lecture theatres' to actually have any walls!

 

My first ICR blog post!

My final task was to write a blog post about some aspect of the conference. Before the conference started, I thought I might write something that was more focused on genomics technologies. However, I was surprised by how much of the conference covered genomics as part of healthcare.

In particular, I was left with the sense that genomics is finally delivering on some of the promises made back in 2003 when the human genome sequence was published. One of the target areas that was mentioned in this 2003 NIH press release was 'New methods for the early detection of disease'.

This is something that is now possible with whole genome sequencing being deployed as part of the 100,000 genomes project (undertaken by Genomics England). The ability to screen a patient for all known genetic diseases leads to many concerns and challenges — you should see Gattaca if you haven't already done so — but it was heartening to see how much groundwork has been put in to stay on top of some of these issues.

This is my first proper blog post for the ICR, and if you are interested in finding out more, please read my post on the ICR's Science Talk blog:

We have not yet reached 'peak CEGMA': record number of citations in 2016

Over the last few weeks, I've been closely watching the number of citations to our original 2007 CEGMA paper. Despite making it very clear on the CEGMA webpage that is has been 'discontinued' and despite leaving a comment in PubMed Commons that people should consider alternative tools, citations continue to rise.

This week we passed a milestone with the paper getting more citations in 2016 than in 2015. As the paper's Google Scholar page clearly shows, the citations have increased year-on-year ever since it was published:

While it is somewhat flattering to see research that I was involved so highly cited — I can't imagine that many papers show this pattern of citation growth over such a long period — I really hope that 2016 marks 'peak CEGMA'.

CEGMA development started in 2005, a year that pre-dates technologies such as Solexa sequencing! People should really stop using this tool and try using something like BUSCO instead.

Assembling a twitter following: people continue to be interested in genome assembly

Late in 2010, I was asked to help organise what would initially become The Assemblathon and then more formally Assemblathon 1. One of the very first things I did was to come up with the name itself — more here on naming bioinformatics projects — register the domain name, and secure the Twitter account @Assemblathon.

The original goal was to use the website and Twitter account to promote the contest and then share details of how the competition was unfolding. This is exactly what we did, all the way through to the publication of the Assemblathon 1 paper in late 2011. Around this time it seemed to make sense to also use the Twitter account to promote anything else related to the field of genome assembly and that is exactly what I did.

As well as tweeting a lot about Assemblathon 2 and a little bit about the aborted but oh-so-close-to-launching Assemblathon 3, I have found time to tweet (and retweet) several thousand links to many relevant publications and software tools.

It seems that people are finding this useful as the account keeps gaining a steady trickle of followers. The graph below shows data from when I started tracking the follower growth in early 2014:

All of which leaves me to make two concluding remarks:

  1. There can be tremendous utility in having an outlet — such as a Twitter account — to focus on a very niche subject (maybe some would say that genome assembly is no longer a niche field?).
  2. Although I am no longer working on the Assemblathon projects — I'm not even a researcher any more — I'm happy to keep posting to this account as long as people find it useful.