iGeneTech Bioscience Co., Ltd.
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iGeneTech helped build the Huabiao database - whole exome sequencing of 5,000 Han Chinese individuals

On August 2021, 8, the Journal of Genetics and Genomics published a research paper entitled "The HuaBiao Project: Whole-Exome Sequencing of 18,5 Han Chinese Individuals" by the team of Academician Jin Li of Fudan University online. In this study 5,000 samples from three representative Han ethnic groups in Zhengzhou (North China), Taizhou (East China) and Nanning (South China) in China were sequenced to construct the "Huabiao" Chinese exome database. The whole process of the "Huabiao" study used the exome sequencing kit of iGeneTech (AIExome® V1-CNV version: AIExome® V1-CNV) for library construction, and high-quality genetic variation information was obtained.


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https://doi.org/10.1016/j.jgg.2021.07.013

Existing large public WES databases, such as ExAC, gnomAD, etc., their samples are mostly composed of Caucasianic, African-American or Latino people, and the number of Han samples is limited. The Han are the most populous ethnic group in the world and have a high genetic diversity. Therefore, the establishment of a high-quality and representative WES database of Han population is of great value for the study of genetic diseases.
In November 2017, under the guidance of the Ministry of Science and Technology of the People's Republic of China and the Health Commission, Academician Jin Li of Fudan University took the lead in launching the construction of the "Huabiao Project" public database of all exons for the Han population, which is committed to building a good self-owned population database for medical genetics research in China and providing reference for medical genetics research and clinical application. As the partner and the only supplier of the whole exome detection kit, iGeneTech participated in the release and construction of the database.

In this study, 5000 Han individuals from Zhengzhou in North China, Taizhou in East China and Nanning in South China were deeply sequenced, and theiGeneTech AIExome® V1-CNV Kit was used for exome sequencing data collection, and the "Huabiao" Chinese Han exome database was constructed. The database contains a total of 207 million genetic variants, of which 46.4% were identified for the first time in this study. In order to promote the sharing of database resources, the project team built the "Huabiao" Chinese Han exome database website (https://www.biosino.org/wepd), from which researchers can quickly retrieve relevant genetic variation frequency information.


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"Huabiao" exon database genetic variation frequency information query web page

In order to obtain high-quality genetic variation information, the study first guarantees high-quality raw sequencing data and high-depth coverage of the sequencing area. The exon sequencing kit used by iGeneTech (AIExome®V1-CNV version: AIExome®V1-CNV) has efficient exon capture efficiency and excellent coverage area uniformity. Based on a standard bioinformatics process, the study performs multifaceted validation of the resulting genetic variation information. Firstly, compared with the Chinese family standard product (http://chinese-quartet.org/), the accuracy of the genetic data of the standard product in "Huabiao" was found to reach 96.8%. After comparison, the consistency rate reached 99.8% compared with the whole genome chip data; The frequency of the Huabiao database was highly consistent with that of the shared genetic loci in gnomAD (East Asian population) (R2>0.99). The above results prove the accuracy of the variation data of the "Huabiao" exon database.
AIExome®series product introduction
iGeneTech is a national high-tech enterprise focusing on gene capture technology, with two sets of independent intellectual property rights gene capture technology custom development platform: liquid phase probe hybrid capture sequencing technology (TargetSeq®) and multiplex PCR amplicon capture sequencing technology (MultipSeq®). AIExome® series products are based on TargetSeq® liquid phase probe hybrid capture technology, a variety of flexible options, is a fully exon capture made in China. At the same time, all the sequencing data of iGeneTech will be annotated with the population frequency of the "Huabiao Database", which is more conducive to the discovery of rare disease-causing variants.
Product performance and data performance
To obtain more meaningful mutations, further save the amount of data, we launched AIExome® V2. The coverage of CDS in RefSeq, GENCODE and CCDS databases reached 99.79%, 99.64% and 99.81%, respectively, achieving ultra-high coverage of CDS.
Data performance of AIExome® V2 on normal samples (cells, saliva, whole blood) and FFPE samples with different degrees of degradation at different starting amounts (50 ng and 200 ng). From the sequencing results, the capture efficiency (on-target rate) is greater than 80%. At an average sequencing depth of 100 ×, the 20× coverage rate for normal sample was 99%, and for FFPE samples was 98%, which had good coverage uniformity for the target area.
Flexible choice: Exclusive customization, multi-sequencing platform matching
In the years of exploration and accumulation, the self-developed gene capture technology platform and the platform construction of AIExome® series products have achieved good adaptation to mainstream sequencing platforms (such as illumina and MGI). In 2020, the ultra-high-throughput sequencer DNBSEQ-T7 entered the production center of iGeneTech, laying the foundation for iGeneTech multi-sequencing platform and cost-effective whole exome sequencing services.
The solid technical foundation of iGeneTech also determines that it can provide customers with more cost-effective personalized customized products. Taking the whole exome as an example, it supports the personalized customization service of AIExome® plus , and can flexibly increase the target region according to the research needs to achieve the specific customization of the whole exoon, including but not limited to: tumor-related genes, MSI regions, HLA regions, hot mutation regions, etc., so as to serve customers' personalized exon product needs in a better, more flexible and cost-effective manner.