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Updated: Jan 4, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
RETRACTED: CGVD: a genomic variation database for Chinese populations
Jingyao Zeng1,2,3, Na Yuan1,2,3, Junwei Zhu1,2,3
1National Genomics Data Center, Beijing 100101, China.
The Chinese Genomic Variation Database (CGVD) now offers a comprehensive map of genomic variations from Chinese populations. This resource aids precision medicine and pharmacogenomics research by detailing genetic variations and drug-related gene frequencies.
Area of Science:
- Genomics
- Bioinformatics
- Precision Medicine
Background:
- Precision medicine requires extensive population-based genomic data.
- Genomic variation maps are crucial for understanding population-specific health traits.
- Existing databases may lack comprehensive data for specific ethnic groups.
Purpose of the Study:
- To establish the Chinese Genomic Variation Database (CGVD) for population-based genomic studies.
- To integrate and analyze genomic variations from Chinese cohorts.
- To provide pharmacogenomic data, including star-allele frequencies for drug-related genes.
Main Methods:
- Whole-genome sequencing (WGS) of Chinese individuals.
- Identification and aggregation of single nucleotide variants (SNVs) and small insertions/deletions (indels).
- Calculation of star-allele frequencies for pharmacogenomic analysis.
Main Results:
- CGVD integrates 48.30 million SNVs and 5.77 million small indels.
- Data sourced from 991 individuals in the Chinese Academy of Sciences Precision Medicine Initiative Project (CASPMI) and 301 from the 1000 Genomes Project (1KGP).
- Star-allele frequencies for drug-related genes are provided for CASPMI and 1KGP populations.
Conclusions:
- CGVD serves as a vital resource for population-based genomic variation data in China.
- The database supports precision medicine initiatives and pharmacogenomics research.
- CGVD will be continuously updated with more genomic variations and annotations.
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