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【Nature Sub-journal】Zhu Zhenggang of Shanghai Jiao Tong University and other teams published a pangenomic analysis of gastric cancer in China

 Last Update: 2022-10-03
 Source: Internet
 Author: User

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This article is the original of the translational medicine network, please indicate the source when reprinting

Author: Mia

Pangenomics research will hopefully improve the integrity of the human reference genome (GRCh38) and promote precision medicine

On September 15, Prof.

background

Since its first release 20 years ago, the human reference genome (current version GRCh38) has significantly facilitated extensive biomedical research

Pangenomics was first proposed in 2005 as a collection of microbial population genes that study patterns

The pangenome contains two types of genes, the core gene shared by all individuals and the distribution gene

In previous studies, the research team developed a human pangenomic analysis (HUPAN) tool for constructing human pangenomes from WGS data and characterizing

Research overview

Using HUPAN, the research team collected 185 pairs (370 samples) of WGS data

The researchers found that four distribution genes, ACOT1, GSTM1, SIGLEC14, and UGT2B17, exhibited extremely high deletion frequencies in gastric cancer populations

Both genes UGT2B17 and GSTM1 are enriched

Paradigm of deletion variation and functional enrichment of distributed genes

The research team also successfully characterized a gene, GC0643

In addition, they found that GC0643 was missing not only at the somatic level, but also

Research summary

In conclusion, the researchers developed a new cancer genomics research strategy by combining human reference genomes and non-reference sequences

Resources:

This article is intended to introduce medical research advances and cannot be used as a reference for

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