19 02, 2018

CRISPR diagnostics

By | February 19th, 2018|Categories: Diagnostics Tech, Methods and applications|0 Comments

Two papers in Science last week show how CRISPR can be used as a diagnostic tool. The first comes from the same team at The Broad that brought us the SHERLOCK method, the second from Jennifer Dounda’s group at Berkley. Both methods promise simple diagnostics […]

14 02, 2018

New products from @10XGenomics #AGBT18 workshop

By | February 14th, 2018|Categories: 10X Genomics, Conferences, Methods and applications, Next-generation sequencing|0 Comments

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 […]

3 01, 2018

NGS methods naming discussed in Nature Methods

By | January 3rd, 2018|Categories: Methods and applications, Next-generation sequencing|0 Comments

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 […]

24 11, 2017

SPLiT-Seq: single-cell RNA-Seq without the hardware

By | November 24th, 2017|Categories: Methods and applications, Next-generation sequencing, Single-cell sequencing|Tags: , , |0 Comments

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 […]

8 11, 2017

Error-corrected ctDNA sequencing for mutation and CNV using UMIs

By | November 8th, 2017|Categories: ctDNA, Exomes and amplicons, Methods and applications, Next-generation sequencing|2 Comments

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 […]

7 11, 2017

R vs Excel by @vivalosburros

By | November 7th, 2017|Categories: I am not a Bioinformatician, Methods and applications, Other stuff|0 Comments

In this post I wanted to highlight the wonderful “Excel vs R: A Brief Introduction to R”  by Jesse Sadler. This is full of useful and practical advice on using R in place of Excel (or any other spreadsheet) for simple data analysis. I use […]

19 10, 2017

@Illumina Nextera Flex

By | October 19th, 2017|Categories: Exomes and amplicons, Library Prep, Methods and applications, Next-generation sequencing|1 Comment

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; […]

16 10, 2017

WGS of HPV reveals the finer details of HPV genetic variation

By | October 16th, 2017|Categories: Methods and applications, Next-generation sequencing, Uncategorized|0 Comments

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 – […]

21 07, 2017

DAP-Seq for higher-throughput transcription factor analysis

By | July 21st, 2017|Categories: Methods and applications, Next-generation sequencing|0 Comments

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, […]

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