AJHG: Heavy! Scientists have discovered for the first time that there is an appearanceal genetic defect or prevalence in the human genome!

September 18, 2020 // -- In a recent study published in the international journal American Journal of Human Genetics, scientists from Mount Sinai Hospital and other institutions revealed for the first time the pervasive oscic genetic defects in the human genome, as well as those that occur in hundreds of genes that cause genetic diseases.
Photo Source: Pixabay/CC0 Public Domain researcher Andrew Sharp says that because it is not ability to detect oscic genetic mutations through genome sequencing, but these mutations can lead to abnormal or silent gene expression, which is closely related to the occurrence of genetic diseases, the results of this study suggest that certain types of pathogenic mutations may be ignored and missed by standard genetic testing that only observes DNA sequences.
study, researchers studied the methylation of DNA in more than 23,000 individual organisms, the first large-scale population survey of a rare appearanceal genetic defect in the human genome.
Researchers have identified thousands of presenterative genetic mutations and revealed for the first time that they are relatively common phenomena/events in the human body, noting that these overt genetic mutations are closely related to abnormal gene expression, many of which are predicted to affect the genes of Mendel's disease, which also appear to be an important part of many different types of genetic diseases.
In this study, the researchers also offered many new insights into the causes and biological characteristics of the marker genetic mutations, but also noted that while some mutations are caused by rare sequence variations that interfere with the function of the regulatory elements (about one-third of them are), and while some of the oscic genetic mutations may be genetic events, others seem unlikely to pass them on to future generations, further analysis has identified a variety of new CGG sequences hidden behind these oscic genetic mutations.
In the past decade, individual reports of the occurrence of genetic defects that cause genetic disorders, including hereditary breast and colon cancer, have appeared in a number of literatures, but they are considered very rare events, and researchers are trying to determine the potential impact of such mutations on all types of Mendel diseases through in-depth research, as well as in-depth disclosure of the causes and underlying biological characteristics of the genetic mutations.
() Original source: Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, et al. A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and CGG expansions, American Journal of Human Genetics (2020). DOI: 10.1016/j.ajhg.2020.08.019.