11 06, 2019

Will the $1000 genome celebrate its 5th birthday?

By | June 11th, 2019|Categories: Next-generation sequencing|12 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 […]

18 10, 2018

Single-cell cancer sequencing on BioRxiv

By | October 18th, 2018|Categories: 10X Genomics, Methods and applications, Next-generation sequencing, Single-cell sequencing|0 Comments

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 […]

21 06, 2018

@Illumina #NovaSeq new mini flowcell

By | June 21st, 2018|Categories: Core facilities, Next-generation sequencing|2 Comments

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 […]

17 05, 2018

Size matters…for cfDNA (and ctDNA)

By | May 17th, 2018|Categories: ctDNA, Library Prep, Methods and applications, Next-generation sequencing|0 Comments

“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 […]

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