I’m really pleased to have a commentary article published in Nature Methods today: A profusion of confusion in NGS methods naming. My colleague Jaques Retief and I have been talking about NGS methods for many years and decided to write this article to highlight some of […]
Anyone who’s run Illumina instruments over the years is likely to have noticed how flowcells can have remarkably similar (and occasionally amusing) names. This can create a real headache when looking for a specific run as a single mismatch can cause you to spend some time […]
I’ve been meaning to write up a post on a BioRxiv report from earlier this year: “Scaling single cell transcriptomics through split pool barcoding”1. The Seelig Lab at the University of Washington have developed a single-cell RNA sequencing method to enable labelling RNA molecules with cell-of-origin information using […]
A recent BioRxiv report from the Gerlinger group at ICR describes a targeted ctDNA sequencing method that uses error correcting UMIs to achieve 100% sensitivity for mutant allele frequencies of >0.15%, and 87% at >0.075%, and reduce false-positive mutation calls by 98.6%, without adversely affecting the […]
My lab has been a long-time user of Illumina’s transposase exomes for the very simple reason that the 50ng input has been the lowest on the market for number of years*. This made it attractive for cancer samples where we are really limited on DNA availability; […]
Because HPV has such a small and relatively simple genome (8,000 bp encoding 8 genes) it is possible to screen for genetic variation that may underly carcinogenesis. A team from the National Cancer Institute (NCI) has just published the sequencing of over 5,570 human cell and tissue samples – […]
A short article in todays Times quotes William Cowley parchment makers as saying velum provides the only foolproof way for detecting art forgery. Very simply an artist creates their work on vellum and retains a sample for genetic comparison should a suspected forgery come to […]
The Ecker lab at the Salk Institute published a method for very high-throuphut transcription factor analysis in Nature Protocols yesterday: Mapping genome-wide transcription-factor binding sites using DAP-seq. The method is elegantly simple in its concept; PCR-free libraries from native gDNA are hybridised with affinity-tagged in vitro-expressed transcription factors, […]
A recent paper in Nature Scientific Reports from Maurice Jansen’s group at the Erasmus Medical Centre in Rotterdam presents ctDNA analysis by targeted NGS from just 250pg of input cfDNA . This is a very small amount of material, and although the authors do discuss […]
The Genomics England project (a.k.a. UK100k genomes) is known as a whole genome sequencing project. It aims to sequence 100,000 genomes from UK NHS patients with Rare Disease or Cancer. But Genomics England have a very nice tool for people interested in targeted sequencing via […]
