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Genomics week in brief: Week ending 20th May

Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space!

Top stories from the past week:

  • A study has revealed a class of long-non-coding RNAs associated with oesophageal cancer. The findings could contribute to the development of new therapies (Gastroenterology).
  • Cells can use uridine – a building-block unique to RNA – as an energy source, using a formerly unknown biochemical pathway that breaks down uridine-derived sugars (Nature Metabolism).
  • A technique has been developed that rapidly characterises mitochondrial genetic variants, allowing faster diagnosis of mitochondrial disease (Journal of Medical Genetics).
  • A computational genomics tool has been developed that can identify tumour antigens derived from alternative splicing. This has increased the number of known immunotherapy targets (PNAS).
  • A large-scale DNA analysis has revealed significant genetic differences between primary and metastatic tumours (Nature).
  • The deactivation of an epigenetic RNA editor has been linked to liver cancer (Molecular Cancer).
  • Certain bacteria in the gut have been linked to the risk of Alzheimer’s disease. The composition of the gut microbiome can depend on genetics and diet (Scientific Reports).
  • Genetic analysis of modern populations and ancient fossils has revealed a model that challenges our understanding of human evolution (Nature).
  • Researchers have discovered a genetic variant that protects against Alzheimer’s, even in the presence of another harmful variant (Nature Medicine).
  • Researchers have identified base pairs that have remained constant throughout millions of years of evolution. These base pairs were disproportionately associated with human disease (Science).
  • A team of bioinformaticians have proposed a new metric to quantify genetic differences between test and training groups. The metric, called genetic distance, could subsequently help to improve the accuracy of polygenic scores (Nature).
  • A new developmental disorder has been characterised, caused by mutations in the gene CBX1 (Genetics in Medicine).
  • Researchers have discovered a number of genes expressed in the brain before birth that contribute to childhood mental illness (Nature Neuroscience).

In other news:

  • Over 60,000 UK Biobank volunteers are to undergo brain and body imaging to further our knowledge of human disease. This is the second time the volunteers have undergone imaging, therefore the data should tell us more about how the body ages (UK Biobank).
  • Draft guidelines for the NHS have suggested that stroke patients be offered genetic testing to see if they will respond to certain preventative medications (BBC).
  • A microwave-based device could be used to eradicate cervical cancer cells in a less invasive way than is currently available (Guardian).
  • Recent work revealed that high quality human DNA can be obtained from almost everywhere in nature. However, the findings present ethical challenges around the use of this DNA (Nature Ecology and Evolution).