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Genomics week in brief: Week ending 17th October

Another week of interesting and ground-breaking research, all brought to you in one place.

Top stories from the past week

  • Researchers have identified shared gene signatures in the peripheral blood and placenta from preeclamptic pregnancies, maternal asthma, vitamin D insufficiency and excess body mass index. (Mirzakhani et al, 2020)
  • A team of researchers have developed a disease-specific variant classifier – CardioBoost – that estimates the probability of pathogenicity for rare missense variants in inherited cardiomyopathies and arrhythmias. (Ware et al, 2020)
  • Researchers have found that ERK3 is required for non-small-cell lung cancer tumour progression. This suggests the potential use of ERK3 kinase inhibitors for treating KRAS-driven tumours. (Rajalingam et al, 2020)
  • A team of scientists have established an automated pipeline to create mutations within genomic enhancers in Drosophila, allowing them to watch evolution unfold. These results may provide important insight into the regulation of human diseases. (Crocker et al, 2020)
  • TERRA (RNA species) is important in regulating the length and function of telomeres. Now, researchers have unravelled how these molecules specifically target such areas. They have revealed that RAD51 is particularly important in regulating TERRA association with telomeres. (Lingner et al, 2020)
  • Findings have indicated that CASZ1b is a novel transcriptional corepressor of the mineralocorticoid receptor. These findings provide new insights into the pathophysiology of hypertension. (Itoh et al, 2020)
  • Researchers at Massachusetts General Hospital have developed an enhanced form of liquid biopsy that could accurately detect and monitor two mutations of the TERT gene. This discovery has the potential to improve the diagnosis and monitoring of gliomas. (Carter et al, 2020)
  • By combining healthcare and research data, researchers have discovered 28 novel genes associated with developmental disorders. (Retterer et al, 2020)

In other news

  • October marks the month of Breast Cancer Awareness and on Friday 23rd October, breast cancer charities have encouraged individuals to wear pink in order to raise awareness and money to help cancer research.


  • Join the final webinar in our ‘Liquid Biopsy ONLINE’ series on Thursday 22nd October at 3pm BST/ 4pm CET/ 10am EST. This webinar will explore the applications for microsatellite instability testing. Make sure you don’t miss it!
  • Cambridge Rare Disease Network are hosting a virtual event on Saturday 28th November 2020. RAREFest will include a range of talks, panels, Q&As, patient stories, films and much more. It is free to attend.