Reflections on the 2019 Festival of Genomics conference in London

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For the third year in a row, I attended the Festival of Genomics conference in London. This year saw the conference change venue, moving from the ExCel Arena to the Business Design Centre in Islington.

The new venue was notably smaller leading to many sessions being heavily overcrowded. There were also fewer 'fun' activities compared to previous years. No graffiti wall and no recharging stations (massage stands and power points for phones).

The opening keynote was given by Professor Mark Caulfield (Chief Scientist at Genomics England

From 100K to 500K

Reflecting on the completion of the 100,000 Genomes Project, Professor Caulfield revealed that the 100,000th genome was completed at 2:40 am on the 2nd December.

He also shared details that at the peak, the project was completing 6,000 genomes a month and it has now reached 103,311 genomes.

The next phase will see 500,000 genomes completed within the NHS over the next five years, with an 'ambition' to go on to sequence five million genomes.

Looking at the global picture of human genome sequencing, Professor Caulfield projected that there will be 60 million completed genomes by 2023.

I wrote more about the conference in a blog post for The Institute of Cancer Research:

Damn and blast…I can't think of what to name my software

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As many people have pointed out on Twitter this week, there is a new preprint on bioRxiv that merits some discussion:

The full name of the test that is the subject of this article is the Bron/Lyon Attention Stability Test. You have to admit that 'BLAST' is a punchy and catchy acronym for a software tool.

It's just a shame that is also an acronym for another piece of software that you may have come across.

It's a bold move to give your software the same name as another tool that has only been cited at least 135,000 times!

This is not the first, nor will it be the last, example of duplicate names in bioinformatics software, many of which I have written about before.

The 100,000 Genomes Project has finished

This week I helped write a blog post for The Institute of Cancer Research to mark the completion of the 100,000 Genomes Project. This blog post was co-written by a former colleague, Dr Sam Dick, who wrote the majority of the article:

Read the blog post:

Reflecting on this milestone achievement, I also took to Twitter this week for a lengthy (and admittedly rambling) thread that reflected on how far genomics has come as a field. Click on the tweet below to see the full Twitter thread:

Hopping back for another JABBA award

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So I was meant to have retired myself from handing out JABBA awards to recognise instances of ‘Just Another Bogus Bioinformatics Algorithm’. However, I saw something this week which clearly merits an award.

And so, from a new paper recently published in PLoS ONE I give you:

The three lower-case letters signal that there is going to be some name wrangling going on…so let’s see how the authors arrive at this name:

GRASShopPER: GPU overlap GRaph ASSembler using Paired End Reads

That’s how it is described in the paper, so I guess it could have also been called ‘GOGAUPER’? I find this is another example of a clumsily constructed acronym that could have been avoided altogether.

‘Grasshopper’ is a cool, and catchy, name for any software tool and it doesn’t really need to be retconned into making an awkward acronym.

It does, however, give me one new animal for the JABBA menagerie!