Novel rare neurodevelopmental disorder manifests itself by speech delay, intellectual disability, dysmorphic facial features, abnormal MRI, hypotonia – and it’s…
Discoveries
Polygenic risk score connects many genetic variants to determine the risk of a disease – in the case of obesity,…
Out of 295 yeast strains, each with deleted single intron, 64% do not survive stress conditions. Their function in stress…
Enhancer specific for cell type helps to form pre-initiation complex – in a manner of burst frequency, stimulates expression of…
Stargardt disease is caused by intron mutations in ABCA4 gene in 2/3 of patients. More: Deep-intronic ABCA4 variants explain missing…
LINE-1 becomes active shortly after fertilization, which was observed by expression measurements, as well as sequencing of embryos. More: LINE-1…
Comprehensive genome study found that 566 genetic variants influence addictive behaviors, which can be classified to 68 clusters contributing to…
Human genome from 70th to 80th year of life, becomes globally more disrupted, with evident changes in genetic control, genes…
Some scientists criticize polygenic risk scores, such as those assessing the risk of coronary artery disease, because of their low…
Sleep disorders were found to have common genetic origin: gene HLA-DQB1 with variants that can increase or decrease the risk…