3月10日，《自然》系列期刊Nature Portfolio刊发专题文章《塑造未来 —Omics for all》对中国基因组测序机构华大基因进行了特别报道。
On March 10, Nature Portfolio published an article entitled Shaping the Future of Omics for All, reporting the story of Chinese genome-sequencing organization BGI Genomics.
文章报道了关于华大基因多年来在基因科技及生命科学领域的发展，介绍了华大基因在人类基因组计划、3000水稻基因组计划、多组学数据挖掘系统Dr. Tom等国际重大项目的研究成果。文中出现的 “籼”和“粳”两个汉字则是来自于此前华大基因科研人员参与的关于水稻基因组测序的研究论文。
The story reported BGI’s development in life sciences over the past few decades and the organization’s achievements in the Human Genome Project, the 3,000 Rice Genomes Project and data mining system Dr. Tom. The two Chinese characters of 籼 (Xian) and 粳 (Geng) in the report originated from a paper on rice genomes, which was co-published by BGI researchers.
The “3,000 Rice Genomes Project”, jointly initiated by BGI Genomics, the Chinese Academy of Agricultural Sciences and the International Rice Research Institute, was published in Nature in 2018.
In this English language journal, the paper features the two Chinese characters of 籼 (Xian) and 粳 (Geng) in its graphics.
据悉，在该论文发表之前，国际上均以“Indica（印度型）”和“Japonica（日本型）”来命名水稻。作为栽培稻种的最重要原产地之一，中国有着5000多年的水稻种植历史。所以，用 “Indica” 和 “Japonica” 两个单词来命名水稻的两个亚种，不能真实地反映籼稻和粳稻的亲缘关系、地理分布和起源演化过程。
It is reported that before the paper was published, international academia had used IndicaandJaponica, which are Indian and Japanese names for breeds of rice. However, as one of the most important origins of paddy rice, China has more than 5,000 years of cultivation. It is therefore incorrect to useIndicaandJaponica to name the rice subgroups ofXianandGengto represent the subgroups’ relationship, location, and evolution.
Based on this, researchers had to explain the history and origin of rice to the paper’s editors. After nearly two years of back and forth discussion, the names of rice subgroups were renewed to XianandGeng, and the Chinese characters were printed in Nature.
The debut of Chinese characters in Nature represents the recognition of Chinese rice culture and its scientific and technological strength by the world’s top academic journal. It is also a milestone for BGI in rice research after it completed the rice genome framework and fine mapping in 2002.
Through single nucleotide polymorphisms (SNP) analysis, and the comparative analysis of the genomes of structural variation (SV), their work supports the multiple origin hypothesis of different rice lineages, said Tai Shuaishuai, BGI Genomics researcher specializing in agriculture genetics.
“One of the biggest challenges we overcame 10 years ago was the very low sequencing throughput, and scarce resources. In order to complete the sequencing of the rice genomes, BGI Genomics had to use all the sequencing capacity. But after years of innovation, sequencing power is now more than 100 times faster than in the early 2010s,” Tai said.
Founded in 1999, BGI was launched to participate and contribute to the HGP. Apart from rice genomes, as a company with scientific research DNA, BGI has expanded its footprint to all fields of life sciences.
In 2021, Wang Jian, BGI co-founder and chairman, was part of an expedition to the western Pacific Ocean, helping to sample organisms living 10 kilometers below the surface.
“Our team is keen to support international collaborations, such as the Mariana Trench Environment and Ecology Research Project,” Wang said.
“We hope that the digitized genetic materials will shed light on questions about the origin of life, biodiversity, and extreme environmental adaptation.”
Exploring life and tackling difficulties with technological innovation is the vision of every scientist. It is also what BGI Genomics has been committed to for years.
In 2018, BGI launched Dr. Tom, an advanced and intuitive data visualization system for efficient analysis and discovery. It was developed by a team led by Tang Chong, deputy director of research and development department at BGI Tech.
据介绍，Dr. Tom 多组学数据挖掘系统整合了多个国际常用的基因数据库和生物信息分析工具，没有相关经验的用户也能轻松完成生信分析。该系统能够个性化地帮助用户轻松完成从建库、测序到分析的工作，方便快捷地挖掘基因和蛋白数据价值，对数据进行可视化的分析和解读。
According to the company, Dr. Tom integrates international gene databases and bioinformatics tools, which helps inexperienced users to conduct the bioinformatics analysis. It provides users with tailor-made services from database construction, sequencing and analysis, helping to efficiently complete the data mining of genes and proteins, and data visualization analysis and interpretation.
With interactive and intelligent competitiveness, the system benefits the analysis of omics data. Over the past three years, it has been used by scientists and researchers from more than 20 countries and regions.
“Our visualization feature is meant to be interactive for idea exchange, encouraging communications and collaborations,” Tang said.
“Since the development of next-generation sequencing, processing the data produced is a time-consuming work for most computers,” Tang said. “We are still improving our design, but what used to take a day to quantify genetic data mining now only needs one to two hours.”
From participating in international science projects to technological innovation and the commercialization of scientific results, BGI Genomics is dedicated to making life science and technology affordable and accessible to the public.
In 2021, BGI Genomics teamed up with the West China Hospital of Sichuan University to launch the project of sequencing 100,000 people with rare diseases, announcing it would co-build a genetic sequencing platform.
The project plans to complete the sequencing of 100,000 people with rare diseases within five years. It aims to establish biomarkers and targets for early detection, diagnosis, treatment and curative effect evaluation of rare diseases through genome sequencing and clinical data, and forming precise prevention and treatment schemes, which would benefit patients and families.
In China, there are more than 20 million people with rare diseases. Rare diseases are generally chronic, severe and often life-threatening. There are more than 7,000 rare diseases in the world, and the number is increasing at a rate of 250 to 280 per year. It is estimated that between 263 million and 446 million people suffer from rare diseases worldwide.