25 May 2012

Bioinformatics for Clinicians

I have just returned from the idyllic campus of the Wellcome Trust Sanger Institute in the delightful Cambridgeshire hamlet of Hinxton. Being in such hallowed surroundings, and hob-nobbing with my wonderful colleagues in this extaordinary genetics adventure, I have to say I felt a little embarrassed at my lack of knowledge of the world of modern bioinformatics.

Here we are, up to our necks in the largest and most exciting research project of its kind to date - the Deciphering Developmental Disorders (DDD) Project - and many of us clinicians are not even close to coming to grips with the tools of the trade. We're emerging into the world of genome analysis, with next generation sequencing generating gigabytes of valuable information, yet most doctors in Genetic Medicine don't have the skills to unpack and analyse these data. I'm not suggesting that genetic doctors need to become super-duper bioinformaticians, but I think we do need to do some work to at least communicate meaningfully with the (very clever and lovely) scientists who are turning our dreams into reality.

So, dear readers, what bioinformatics tools do you feel would be helpful for clinicians, and have you any proposals as to how we upskill the jobbing Genetic Medic in handling Big Data? Please leave some comments to let me know, and I'll try to collate your thoughts. Thanks in advance!


  1. 1000 Genomes Project: http://www.1000genomes.org

    1. We even have some tutorials http://www.1000genomes.org/using-1000-genomes-data

  2. Details of the Manchester course on Bioinformatics for Clinical Geneticists: http://www.ngrl.org.uk/Manchester/news/training-bioinformatics-clinical-geneticists-16-17-october-2012

  3. All the various tools built into Ensembl are pretty valuable. The European Bioinformatics Institute runs various training courses in using Ensembl too:


  4. Brilliant - thanks Luke!