I’m at the 6th UK Genome Science conference in beautiful and vibrant Birmingham. There is a good attendance and the place is full with a real buzz about new technologies (more about that in a sec), the work people are doing and the freebies on […]
Today Ion Torrent launched their newest sequencers the S5 ($65k or $150k with the S5 XL, which includes more compute). Ion Torrent was exciting technology when we first heard about it and I’m disappointed it never quite lived up to the promise, and that it […]
The GEUVADIS Consortium published a study looking at reproducibility in RNA-seq in Nature Biotech in 2013 and I only just saw the paper. I thought that readers of this blog would be interested so take a look: Reproducibility of high-throughput mRNA and small RNA sequencing […]
Core Genomics is now on holiday for two weeks after finally graduating from my PhD yesterday, 20 years to the date I finished my BSc, better late than never! Back in mid-August folks.
NIPT for Down’s Syndrome and other chromosomal abnormalities is taking off. A colleague of mine recently had an Ariosa test, paid for privately, and reported real satisfaction with the process. Lin Chitty at UCL Institute of Child Health and Great Ormond Street Hospital recently reported […]
The MRC have a nice career mapping tool: Interactive career framework which allows biomedical researchers to navigate through different options to see how they might get where they want to. I’d like to think of myself as a technology Specialist Director: “an individual with technical […]
Genomics has recently been singled out as one of the largest data headaches we face. As we move to sequencing people multiple times, start newborn genome sequencing programs and increase our use of consumer genomics the amount of data goes up and up. Our GA1 […]
Illumina have discontinued the version 1 of the NextSeq chemistry. Launched in January of last year the NextSeq was a revolutionary new sequencer, although not everyone was an immediate fan. The V2 chemistry was launched just before AGBT and the data certainly looked a lot […]
Illumina have a new offer on their Understand Your Genome (UYG) program that means you can get your genome sequenced, analysed and clinically interpreted for under £2000. Interested? Then there are a few requirements, mainly that you give informed consent and get a doctors prescription for […]
A paper just published in Nature Communications describes a molecular analysis of Pancreatic Cancer by tumour exome and ctDNA targeted sequencing. The results showed enrichment of mutations in known PaCa associated genes, and identified clinically actionable mutations in over 1/3rd of patients. Marc Sausen in […]
