27 11, 2019

Evidence for the use of cfDNA Fragmentome for early detection and monitoring of cacner

By | November 27th, 2019|Categories: Diagnostics Tech, Methods and applications, Next-generation sequencing|0 Comments

In Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection researchers at the Institute of Human Genetics in Austria demonstrate the use of cfDNA for cancer detection and monitoring. The group performed deep ATAC-Seq and deep cfDNA nucleosome mapping to […]

31 10, 2019

CMA says no to @illumina @pacbio deal

By | October 31st, 2019|Categories: Next-generation sequencing|11 Comments

October 25th was my birthday so I’ve been on holiday and waited till I got back before writing this post. There’s been lots of other coverage e.g. GenomeWeb, Motley Fool. Keith at OmicsOmics included a bit more on the other NGS players and emerging technologies and is worth […]

8 10, 2019

@Illumina and @Qiagen’s IVD deal: what does it mean for NGS?

By | October 8th, 2019|Categories: Next-generation sequencing, Uncategorized|1 Comment

Yesterday Illumina and Qiagen announced a 15 year deal to partner on development of NGS in vitro diagnostic kits to run on Illumina sequencers. And Qiagen, more quietly, announced that development of the GeneReader platform will cease. The second piece of news is unsurprising; I’d written about Qiagens […]

11 06, 2019

Will the $1000 genome celebrate its 5th birthday?

By | June 11th, 2019|Categories: Next-generation sequencing|13 Comments

Everyone who has read this blog more than once has seen the Moore’s Law slide below (at a meeting, online, in a book, in a TED talk…). Many times this has come from the NHGRI who have tracked sequencing costs for yonks. Their costs presented […]

6 06, 2019

2-color SBS: @MGI_BGI vs @Illumina

By | June 6th, 2019|Categories: Next-generation sequencing|3 Comments

Updates in […] following some feedback and comments! MGI and Illumina are going head-to-head in a patent battle over the chemistry used to sequence genomes. The battle for sequencing supremacy was won many years ago by Illumina (although @nanopore,@MGI_BGI and a few others still in stealth […]

8 03, 2019

Applying sWGS for copy-number analysis in FFPE tumour tissue

By | March 8th, 2019|Categories: Library Prep, Methods and applications, Next-generation sequencing|0 Comments

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 […]

28 02, 2019

Sesquizygosity due to heterogonesis confirmed by @10Xgenomics linked-reads

By | February 28th, 2019|Categories: 10X Genomics, I am not a clinician, Next-generation sequencing|0 Comments

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 […]

12 12, 2018

@10XGenomics now does #spatialomics

By | December 12th, 2018|Categories: 10X Genomics, Methods and applications, Next-generation sequencing, Single-cell sequencing|0 Comments

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 […]

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