Tag Archives: genetics

15th International Conference on Human Genome Variation – Meeting report

Last week I was lucky enough to attend the HGV2014 meeting at the Culloden Hotel in Belfast. It was my first trip to Northern Ireland and my first attendance at an HGV meeting.  The meeting is small and intimate, but had a great wide-ranging programme, and I would heartily recommend attending if you get the chance and have an interest in clincal or human genomics.

Have a look at the full programme here: http://hgvmeeting.org/

Here’s a link to my write-ups for each session¬† (where I had notes that I could reconstruct!):

  1. Interpreting the human variome
  2. The tractable cancer genome
  3. Phenomes, genomes and archaeomes
  4. Answering the global genomics challenge
  5. Improving our health: Time to get personal
  6. Understanding the evolving genome
  7. Next-gen ‘omics and the actionable genome


23andMe kit ordered

So today I took a look at my savings account for ‘frivolous’ things, wondered what I could do with the money and split it between a couple of nights in a hotel in Manchester for a gig next week, and a 23andMe kit. This is something I’ve been wanting to do for a long time, previously thwarted by a lack of cash.

Watching Genomes Unzipped unfold and seeing a number of my Twitter/FriendFeed/BioStar chums get their spit analysed has been interesting, but since my day to day job now involves hunting down variations in clinical samples from exome sequencing projects, the subject of what might be lurking in my own genome has started to exhibit a morbid fascination.

I will say straight up, that if I had the money and there was an established DTC exome offering, I’d just get my exome sequenced and analyse it myself. However there is admittedly a little professional interest in how 23andMe present the data, as well as finding out more about what might be in store for me as I approach (if I have not already entered ;)) middle age.

I haven’t decided what I might do with the data (in terms of public release) when I receive it, I’m going to have a bit of a think and a read before the saliva kit arrives. Interestingly I’m feeling quite apprehensive about the results even at this stage, we will see how that develops too.