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A research team led by Professor Ye Kai from Xi'an Jiaotong University has detected the existence of "dark matter" in human genomes, including novel forms of complex variants that have never been observed before, Xi'an Daily reported on Oct. 10.
Professor Ye's team published a paper titled "A high-quality human reference panel reveals the complexity and distribution of genomic structural variants" in Nature Communications on Oct. 6.
Genetic material in the human genome may acquire variations over the course of development. No two people share exactly the same genetic sequencing. Some variations lead to differences in appearance and height, while others may be linked to diseases.
The study on individual genetic variations is useful for helping human beings to understand their own potential health risks. It is also the first step toward accurate and personalized medical treatment.
Professor Ye's team, together with 20 research institutions from the Netherlands, the U.S. and Germany, have analyzed the entire genome sequencing data of 769 healthy individuals from 250 families, and provided a haplotype-resolved map of 1.9 million genome variants, including novel forms of complex variants - the dark matter.
The result has been saved in an international database so that more scientists can study and better understand human diseases.