23 06, 2020

Brain cancer testing without the invasive biopsy from @decarvalho_lab

By | June 23rd, 2020|Categories: Diagnostics Tech, Early detection, Epigenomics|0 Comments

Brain cancer is difficult to diagnose and stratify without an invasive biopsy. Daniel De Carvalho’s group have used their cfChIP-Seq technology to non-invasively diagnose and classify brain tumours, potentially removing the need for surgical tissue biopsies. The power of the assay comes from its use of […]

18 06, 2020

Tumour-informed sequencing to increase the sensitivity of ctDNA liquid biopsy

By | June 18th, 2020|Categories: ctDNA, Diagnostics Tech, MRD|0 Comments

A new paper from Nitzan Rosenfeld’s group at CRUK-CI (my old stomping ground) reports astounding sensitivity for ctDNA liquid biopsy. In “ctDNA monitoring using patient-specific sequencing and integration of variant reads” Jonathan Wan and his co-authors performed whole exome sequencing on tumour biopsies (and PBMCs) […]

5 06, 2020

Avida Biomed: early cancer detection with methylation

By | June 5th, 2020|Categories: Diagnostics Tech, Early detection, Epigenomics, MRD|0 Comments

Avida Biomed are an early startup who have developed a novel targeted methylation sequencing technology: Point-n-Seq, for cancer early-detection. Point-n-Seq uses targeted methylation sequencing, which performs enrichment of target molecules directly from cfDNA before bisulfite conversion and amplification. Target panels are small 1-1000 markers. The […]

4 06, 2020

Is MRD detection really possible with 35x coverage of cfDNA?

By | June 4th, 2020|Categories: Early detection, MRD|2 Comments

Ultra-deep & UMI error-corrected sequencing seemed to be the best tool for early cancer detection and MRD. Early detection is now moving to methylation (e.g. GRAIL’s recent CCGA paper) and now MRD is being challenged – this time by 35x WGS sequencing (it’s also being challenged by methylation but that’s for another post).

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18 03, 2020

A CRISPR diagnostic for Covid-19 from @mammothbiosci

By | March 18th, 2020|Categories: Diagnostics Tech, Other stuff|0 Comments

Mammoth Biosciences, one of the two companies developing CRISPR as a diagnostic tool, submitted a medRxiv preprint showcasing their work on a Covid-19 assay. The SARS-CoV-2 DETECTR assay generate results in 30 minutes from from extracted patient sample RNA. The assay performs simultaneous reverse transcription […]

28 02, 2020

The biggest sequencer on the block – @MGI_BGI DNBSEQ Tx

By | February 28th, 2020|Categories: Next-generation sequencing|Tags: , |0 Comments

The announcement of the first $100 30x human genome (reagents only) from Rade Drmanac in the final slot at #AGBT20 means that@MGI_BGI’s DNBSeq Tx is going to be the biggest sequencer in the world. However. it remains to be seen if the $100 genome will be an […]

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 […]

20 11, 2019

@illumina response to CMA

By | November 20th, 2019|Categories: Uncategorized|6 Comments

Illumina’s response to the CMA’s recent findings that their acquisition of PacBio would be anti-competitive was published on the CMA website today. And both theirs, and PacBio’s stock are up (a little bit) as a result. Their suggested remedies include: To grant a perpetual, royalty-free, […]

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