Cancer is a disease driven by mutation and copy-number aberration (CNA) yet most of the data generated to date has focused on SNV and InDel calling – the easy part of DNA analysis, particularly in ctDNA. This means that not enough focus has been put […]
A case report in the New England Journal of Medicine describes a pair of sesquizygotic twins, they share an identical maternal allele, but are chimeric (to different degrees) for two separately identical paternal alleles. The initial ultrasound at 6-weeks showed monozygotic twins, but at 14 weeks it was […]
10Xgenomics buys Spatial Transcriptomics: Single-cell methods are having at least as big an impact on our understanding of biology as microarrays did when they first appeared in the mid-to-late 1990s. And now that 10X Genomics have bought Spatial Transcriptomics many single-cell users are likely to […]
Consider the title of this post. Illumina just spent two times more on PacBio in 2018 than they did on Solexa in 2006. $1.2 billion on a technology that many would say is under huge pressure from @ONT, and is a company burning cash fast…very […]
Three recent papers from Sam Apraicio (@sajraparicio) and Sorab Shah (@SohrabShah) are well worth a read on BioRxiv. In June Kieran Cambell posted a paper describing computational methods to integrate single-cell DNA and RNA-Seq data. And in September Camila de Souza and Emma Laks posted reports […]
Illumina released a new NovaSeq flowcell today: S Prime (SP). This allows users to run a very small number of samples and is much more akin to a HiSeq flowcell; one SP flowcells generates 1.6 billion reads or about 4-5 lanes of a HiSeq. It […]
“It’s not the size that matters, it’s what you do with it that counts!” Turns out that the first statement very much does matter when it comes to cell free DNA. It is becoming clearer that the size of cfDNA and ctDNA is information that […]
On Friday last week I had the pleasure of hosting a half-day Nanostring symposium at Cancer Research UK’s Cambridge Institute (my previous employer). The symposium was arranged as an opportunity to get Nanostring users, and potential users, together to hear about the exciting developments in […]
The 10XGenomics workshop just closed at AGBT and they announced some truly revolutionary new applications: single-cell feature barcoding, single-cell ATAC-Seq and single-cell CNV (feat CBGB). I’ll go through each of these in more detail below but I wanted to start by highlighting the success of single-cell analysis […]
Can transplant genomics help better understand ctDNA? Circulating cell free (cfDNA) of tumour (ctDNA) is released by apoptotic and necrotic cells into blood and other bodily fluids. It has transformed NIPT and is transforming Cancer medicine. However the biology behind it’s release is still not […]
