Looking for the latest life sciences news? Week in Brief has you covered!
Scientists have used CRISPR prime editing to insert recombination handles into repetitive sequences within the human genome. This allows for better analysis of the non-coding genome (Science).
A pan-cancer analysis has shown that the choice of gene signature used to detect hypoxia is a crucial decision. Better detection of hypoxia could lead to improved patient stratification and precision medicine approaches (Cell Genomics).
Researchers have developed a tool, called Genome-Shuffle-Seq, to generate and map structural variants in mammalian genomes. This tool could be used to elucidate the functional consequences of structural variants, which, to date, has been challenging (Science).
Using newly developed technology, scientists have carried out three whole-genome CRISPR screens in order to create and publish the first ever atlas of human cell morphology (Nature Methods).
A study in mice has shown that a single risk variant for Crohn’s disease can substantially alter the microbiome during pregnancy. The offspring born to these mothers also had a lower birth weight (Gut Microbes).
Scientists have developed a method to create ‘mini-organs’ derived from patient stem cells, allowing personalised RNA therapies to be evaluated in a more efficient manner (Nature).
Researchers have identified six regions of the genome associated with inflammation of the iris. They also discovered a correlation between this inflammation and inflammatory bowel disease (Journal of Ophthalmology).
New research has shed light on how copy number variation can influence cognitive function. The findings could lead to better diagnostics and care for neurodevelopmental disorders (Cell Genomics).
An AI model has successfully been used to identify genetic factors that influence the progression of Parkinson’s disease. The research also revealed several drugs that could be repurposed to treat the condition (npj Parkin’s Disease).
Long-read sequencing may be a better option for rare disease diagnosis than short-read sequencing, according to a recent study. The findings revealed that long-read sequencing could reduce both the time and cost of diagnosis whilst providing more comprehensive genetic insights (AJHG).
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