Xi'an Jiaotong University revealed on October 9 that the research team of the school analyzed and reported all types of variations in the genomes of 250 healthy families through the development of new computer algorithms and analytical processes, including a large number of previously unobserved Complex variation, the "dark matter" in the genome.
According to reports, no two people have identical genomic sequences, even the genomes of identical twins, there will be acquired genetic differences in the development of differentiation. Some differences give individuals differences in appearance and height, while other variations may determine whether people are susceptible to certain diseases.
Prof. Ye Kai from Xi'an Jiaotong University and his team and 20 research institutes in the Netherlands, the United States, and Germany analyzed and reported all types of variations in the genomes of 250 healthy families through the development of new computer algorithms and analytical processes. This includes a large number of complex variants that have never been observed before, the “dark matter†in the genome.
Among the 1.9 million large genomic variations identified, large DNA fragments are missing, jumping DNA or large DNA fragments appearing out of thin air. These variants also occur in important functional regions of the genome, such as coding regions encoding key proteins, thereby impairing the function of the resulting proteins.
According to researchers, many large genomic structural variants are often not in the coding part of the gene, and the functional effects of some variants are often difficult to predict. The researchers reported two interesting examples of the discovery of additional DNA fragments outside of the protein coding region and a significant regulatory effect on nearby gene expression. This suggests that even genomic structural variations that occur outside the coding region need to be closely monitored. The study provides a more complete set of genomic variants that provide the possibility to study the effects of large genomic structural variations.
In addition, the study reveals a large number of large fragments of DNA that have never been observed, and these "extra" DNAs do encode proteins. For example, the researchers found the new "ZNF" gene, which is found in half of the Dutch individuals. The gene and other discovered "dark matter" have been kept in international databases for scientists to study to better understand human diseases.
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