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 […]
Genomes, exomes, panels. Patients, doctors and the general public are hearing about things that simply didn’t exist 10 years ago. IO therapy is big news but TMB, a likely biomarker for immunotherapy response, is a simple concept often poorly explained. It is clear that a […]
Last night I watched in amazement as a beating heart was brought into the UK for transplant surgery – the heart was kept alive in the OCS HEART system. The BBC program Heart Transplant: A Chance to Live is outstanding TV and if you can […]
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 […]
The Qiagen GeneReader is an NGS platform developed for the clinic and aims to deliver a sample-to-answer solution. I covered the “launch” of the instrument at the end of 2016 and summarised some of the details but there was no public data to take a […]
In 2013 researchers from Oxford’s Molecular Diagnostics Centre, NIHR BRC, WTCHG and Department of Oncology led by Anna Schuh and Jenny Taylor sequenced 351 lung, melanoma and colorectal tumours from patients using an NGS 46-gene hotspot cancer panel. Results were delivered with a median turnaround of 7 days […]
