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Genomics Week in Brief: Week ending 3rd November

Welcome back to Week in Brief, your weekly run-down of the latest news from the field of genomics and beyond!

Researchers are expanding our knowledge of the human body… 

  • Researchers have published CHESS 3, the latest human gene catalog based on nearly 10,000 RNA-seq experiments using state-of-the-art techniques across 54 body sites (Genome Biol.).
  • Proteomic analysis has identified that more than 1,800 proteins define 18 distinct neuronal synapse types in the human brain (Cell).
  • A new study has improved our understanding of the pathogenesis of liver fibrosis, using transcriptomic and proteomic analyses of mouse model livers (Genomics).
  • Is your brain genetically inclined toward high alcohol consumption? Genome-wide association studies find that many genetic variants associated with alcohol consumption are present in European and East Asian populations (BMC Genomics).

New technologies have been making waves

  • Researchers find that artificial intelligence is nearly twice as good at grading the aggressiveness of a rare form of cancer than the current method (Lancet Oncology).
  • A new technique to rewrite large stretches of DNA in mouse embryonic stem cells could significantly improve accurate mouse models for studying human disease (Nature).
  • A new study has highlighted the importance of choosing the right gene clustering criteria to conduct unbiased pangenome analyses and provides guidelines to do so (Genome Biol.).

New diagnostic tools and treatments have emerged… 

  • Circuit-specific gene therapy could reverse the core systems of Parkinson’s disease, shows primate model (Cell).
  • Whole exome sequencing reveals that Very Early Onset Inflammatory Bowel Disease (VEO-IBD) could be due to genetic disorders involving the DUOX2 gene, providing a potential future diagnostic tool (Front. Genet.).
  • In-organoid single-cell CRISPR screening reveals the determinants of hepatocyte differentiation and maturation that has promising implications for regenerative medicine (Genome Biol.).
  • Circulating tumor cells may contribute to the development of microvascular invasion in hepatocellular carcinoma patients (Front. Genet.).

Plus, new insights into DNA mutations in cells and viruses… 

  • Evolutionary analysis of the genome of a strain of Jingmen tick virus (JMTV) indicates that cross-species transmission of the virus has occurred, raising the risk of its threat to humans (Genomics)
  • Researchers have found that Molnupiravir, an antiviral drug used to treat COVID-19, induces mutations in the SARS-CoV-2 genome that accelerate virus evolution (Nature).
  • A next-generation sequencing of a Palestinian family with inherited cancer syndrome confirms that the homozygous ERCC2 mutation responsible for causing melanoma within the family (Front. Genet.)

In other news, genomics has helped scientists uncover a whole new species…from fossilised poo! 

  • The mitochondrial genome of an ice-age wooly rhino has been reconstructed from DNA found in fossilised hyena poo (Nature). 

Check out last week’s Week in Brief here!