Congratulations to Marc Tischkowitz and colleagues for getting into Altmetrics Top 100 papers of the year. Their NEJM paper on increase risk of breast cancer in loss-of-function PALB2 carriers was number 87 and one of two papers from the University of Cambridge.The Altmetric Top 100 […]
Clinical sequencing is looming and recently I’ve heard more, and better, arguments for using whole genomes. These have mainly focused on the quality of PCR-free genomes, which have uniform coverage and few regions of missing or very low coverage. Compared to the PCR and hybridisation-capture […]
New research at the LMB (across the road from the Institute I work in) has demonstrated how alternate “genetic polymers” can be used in place of DNA and RNA: Synthetic Genetic Polymers Capable of Heredity and Evolution. XNAs [xeno-nucleic acids] use nucleotide analgoues, and the […]
Nature ran a great news feature on the top 100 papers of all time. The graphic below appears in the article and the first thing I wondered is where do papers I’ve been an author on sit? I know this is pure vanity but lets […]
Here’s the front cover to this weeks Nature featuring an image by Kelly Krause (@kellybkrause), Nature’s Creative Director. It is a wonderful picture which manages to blend both Man and Mouse with the DNA helix as the mouse’s tail, a lovely detail.The Mouse ENCODE projects […]
I’d like to say that Ian Hislop and Paul Merton visited last week to record a special HIGNFY, but alas no. However my lab did appear briefly on the most recent show, unfortunately the team mixed our institute up with King’s College! Before I set […]
Comparing CNVsExome sequencing (@Exome_seq) can be used to generate CNV maps bit the data are noisy compared to WGS or SNP-arrays. In this post I’ll describe a novel workflow to get high-quality CNV from an exome-seq pipeline and show some very new data…Image reproduced and […]
A recent paper from the MD Anderson’s Department of Hematopathology reports on their use of the AmpliSeq for a 409 gene panel on Ion Proton: Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours. I’m […]
GenomeWeb covered a recent paper from Stuart Kim’s group at Stanford University: Whole-Genome Sequencing of the World’s Oldest People. Unfortunately they did not find any longevity genes, and Kim was quoted saying “We were pretty disappointed.”There is lots of suggestion that longevity has a genetic […]
In the Summer I posted a Christmas letter to Santa. He’s already delivered number 2 (cheaper RNA-seq) and 3 (longer RNA-seq reads via PE250), and number 4 might be coming soon (exomes at PE125). I’d also asked that he not deliver HiSeq X Ten as […]
