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Genomics week in brief: Week ending 3rd October

Don’t worry! We are back again for the second week bringing you the latest genomics updates over the past week.

Top stories from the past week

  • A study following over 1.5 million girls and women in Sweden over 11 years has found that the risk of cervical cancer by age 30 was 63% lower in women vaccinated with the HPV vaccine, compared with unvaccinated women. (Lei at al, 2020)
  • Using single-nucleus RNA sequencing, researchers have reported several key differences in the brains of ferrets, mice, nonhuman primates and humans. Most surprisingly, the group discovered a new type of interneuron only found in primates. The interneuron was located in the striatum which is associated with Huntington’s disease and potentially schizophrenia. (Krienen et al, 2020)
  • Scientists have identified, using single-cell analysis, populations of cells in the brain that play a role in obesity. They identified that genetic variants associated with obesity were expressed by cell populations that acted as different types of neurons. (Timshel et al, 2020)
  • A team of researchers have found that upon asbestos exposure, HMGB1 protein induces autophagy. In turn, this promotes survival of human mesothelial cells and malignant transformation. (Yang et al, 2020)
  • New findings suggest that reconfiguration of the epigenome drives late-onset Alzheimer’s disease. Using an integrated multi-omics approach, researchers identified this process as a potential target for epigenetic strategies for early-stage disease treatment. (Berger et al, 2020)
  • Researchers from Wellcome Sanger Institute and the University of Cambridge have revealed high variation in the number and type of changes between healthy bladders. These findings indicate the wide range of factors influencing bladder cancer development. (Lawson et al, 2020)
  • Researchers have identified a genomic segment inherited from Neanderthals which confers major genetic risk factor for severe SARS-CoV-2 infection and hospitalisation. (Zeberg and Pääbo, 2020)
  • Researchers, using a computational strategy known as the junction balance analysis (JaBbA) algorithm, have identified three novel complex genome rearrangement groups in cancer genomes. (Hadi et al, 2020)

In other news

  • Sadly, Timothy Ray Brown (“The Berlin Patient”) has passed away following a recurrence of leukaemia.
  • Breast Cancer Now (a UK charity) estimates that a total of 986,000 women across the UK have missed their mammograms. This is due to the halt in breast screening programmes during the COVID-19 lockdown.
  • The University of Manchester and Sano Genetics have announced a partnership to develop new datasets for the acceleration of personalised medicine for genetic eye diseases.


  • Register for our second webinar in the ‘Liquid Biopsy ONLINE’ series taking place this Thursday 8th October. We will be delving into leading case studies of practices to isolate rare events in blood and how this can impact clinical decision-making.
  • Make sure you register for our D4 Global virtual event taking place on Tuesday 13th – Friday 16th October. Talks include challenges of large-scale genomics, using genetics to advance target discovery and the use of whole-genome sequencing in drug development. Tickets are free for people working exclusively in the not for profit sector and for people working for pharmaceutical companies with an existing drug pipeline.

More on these topics

Cancer / Liquid Biopsy / Week in brief