Is called Sting-seq the new analysis technique that makes it possible to identify the genetic variants at the origin of many diseases, even when they are found in the so-called ‘dark side’ of the genome, i.e. in that 98% of the DNA which is not used to encode proteins. The result is published in Science by researchers at New York University and the New York Genome Center.
Sting-seq is a new approach that combines three elements: genome-wide association studies (Gwas), which compare genomes within large populations to find the variants most frequently present in individuals with a specific trait or disease ; the Crispr technique, which with its molecular scissors makes it possible to precisely rewrite the DNA; finally the sequencing of single cells, to evaluate the expression of genes and proteins.
Researchers have applied this method to identify the genetic variants responsible for different characteristics of blood cells (platelets, red and white blood cells). From association studies of more than 750,000 people, they identified 543 regions of the genome that could play a role. They then used a particular version of Crispr that allows you to silence specific regions of the genome. With single-cell sequencing they then went to verify which genes in the vicinity were turned on or off. Once the genetic variant linked to a characteristic or disease and the target gene on which it acts has been identified, it remains to be understood whether it enhances or inhibits its expression. For this, the researchers used a complementary approach, beeSting-seq, which exploits Crispr to insert a genetic variant rather than inhibiting only that region of the genome.
The researchers say that Sting-seq and beeSting-seq could be used to identify variants responsible for many diseases that can be treated with genetic engineering or with drugs that target particular genes or cellular mechanisms.
Source: Ansa
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