Xu Shuhua's team completed the de novo assembly of the Tujia uniparental gene sequences and demonstrated the necessity and application value of the construction of an ethnic group-specific reference genome

<>

On February 17 , 2022 , the international academic journal Cell Systems published online the research results of Professor Xu Shuhua's team from the School of Life Sciences, Fudan University " Haplotype-resolved de novoassembly of a Tujia genome suggests the necessity for high-quality population-specific genome references"

Figure 1.

The genetic code contained in the genome determines the differences between species and individuals, and is the root of phenotype inheritance and biological evolution

To address these issues, the research team used a variety of techniques to determine and assemble a high-quality reference genome ( TJ1 ) at the chromosome level that distinguishes parental origin in a Tujia sample

In terms of genetic variation detection, TJ1 can significantly improve the alignment quality of short read sequencing of Tujia samples compared with other reference genomes; it can detect single nucleotide variation and genome structure more accurately and sensitively Structural variation , especially the improvement of the latter, was the most obvious (Fig.

In terms of population genetics analysis, TJ1 can better represent the dominant allele ( major allele ) in Tujia samples, and more precisely reflect the genetic differences between Tujia and Han people, thus providing more information for genome-wide association analysis and forensic science.

For medical applications, TJ1 can more sensitively and broadly capture rare or low-frequency genetic variants on medically relevant genes (Fig.

Finally, the research team also pointed out that not only the genetic background of the population is a key factor in the construction and application of the reference genome, but also the quality of the sequencing assembly of the population assembly is also very important

This research work was mainly implemented and completed by Dr.

This work has been supported by the National Natural Science Foundation of China, the Shanghai Municipal Major Project of Human Phenotyping Group, the Chinese Academy of Sciences, the Royal Society Newton Fund, the National Key Research and Development Program, and the Shanghai Science and Technology Commission.

Original link: https:// scan code to view the original text