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Genomics Week in Brief: Week ending 6th October

Welcome back to Week in Brief, your weekly rundown of the latest and greatest news in the genomics world. Let’s dive in! 

Large-scale genome studies provide fresh insights…

  • 20 years after The Human Genome Project began, a new Perspective indicates that the number of protein-coding genes in the human genome is stabilising around 19,500 (Nature). 
  • A longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project has indicated variable knowledge, attitudes and even decision regret since the project (Nature). 

How are your diet and DNA linked?

  • Are you genetically inclined to be vegetarian? A new genome-wide association study shows substantial evidence for the heritability of dietary preference (PLOS ONE). 
  • Researchers have established a link between deoxycholic acid-induced cholestrol biosynthesis and gut inflammation, providing a potential target to treat high fat diet-associated inflammatory bowel disease (IBD) (PubMed). 

We’ve had a number of updates in the realm of kidney research…

  • Gene sequencing of the urinary microbiome suggests that dysbiosis could trigger the formation of CaOx kidney stones (Frontiers). 
  • Human leukocyte antigen (HLA) genotype data, which is used to identify kidney donor matches, could be repurposed to inform drug prescriptions and prevent hypersensitivity reactions (Frontiers). 
  • Researchers reveal that rare genetic variations have a significant impact on the levels of proteins in our blood, which could pave the way for new disease treatments (Nature). 

How do genetics influence pregnancy and fetal development?

  • A genome-wide study has identified a link between placental weight and fetal growth, specifically pre-eclampsia risk, shorter gestational period and fetal insulin levels (Nature). 
  • High throughput RNA-sequencing of pregnant mice shows changes in 388 different genes which could be associated with mammalian pregnancy (BMC Genomics). 

As ever, researchers are working hard to prevent and treat disease…

  • Using integrative single-nucleus multi-omics analysis, researchers have completed the most comprehensive analysis of the genes involved in Late Onset Alzheimer’s Disease (Nature). 
  • Scientists have identified DNA methylation markers that provide a potential non-invasive way to detect esophageal cancer (Frontiers).
  • Researchers have identified distinguishable patterns within Zika and Dengue virus using linear epitope mapping, which will aid the development of vaccines in locations where both diseases are prevalent (PLOS ONE).

What other interesting research has gone on this week?

  • The Nobel Prize in Physiology or Medicine has been awarded to Katalin Karikó and Drew Weissman for their research on nucleoside base modifications that enabled the development of effective mRNA vaccines against COVID-19 at an unprecedented rate ( 
  • The second malaria vaccine, named R21, has been endorsed by the World Health Organisation. It is both cheaper and easier to make than the first-approved malaria vaccine (Nature). 

Check out last week’s Genomics Week in Brief here.