GenoMatrix完成全球最大马属变异数据库建设

GenoMatrix Completes World's Largest Equine Variant Database

经过历时两年的专项建设,GenoMatrix已完成覆盖400+品种、4,015万+变异位点的全球最大马属全基因组变异数据库。数据库包含444张数据表、41,896个基因注释,以及全球唯一的马属结构变异库,总规模约22GB。

需要说明的是,"4,015万+变异位点"指整合自dbSNP、Ensembl等国际数据库的马属全基因组变异位点总数;而官网首页展示的"192万+ SNP频率记录"特指具有品种等位基因频率数据的记录条数,两者口径不同。

数据库整合了来自NCBI dbSNP、Ensembl、OMIA、GWAS Catalog等国际权威数据库的变异信息,并叠加了GenoMatrix自主建设的中国马品种基因频率数据,覆盖16个本土品种、1,163个SNP位点。

数据库采用DuckDB作为统一查询引擎,所有数据点均可追溯至来源论文、样本编号及基因组坐标,实现了全链路可溯源。

After a two-year dedicated effort, GenoMatrix has completed the world's largest equine whole-genome variant database, covering 400+ breeds and 40.15M+ variant sites. The database contains 444 data tables, 41,896 gene annotations, and the world's only equine structural variant library, totaling approximately 22GB.

Note: "40.15M+ variant sites" refers to the total number of equine whole-genome variant sites integrated from dbSNP, Ensembl, and other international databases. The "1.92M+ SNP frequency records" shown on the homepage specifically refers to records with breed-specific allele frequency data — these are different metrics.

The database integrates variant information from NCBI dbSNP, Ensembl, OMIA, GWAS Catalog, and other authoritative international databases, supplemented by GenoMatrix's proprietary Chinese horse breed frequency data covering 16 native breeds and 1,163 SNP loci.

Built on DuckDB as the unified query engine, all data points are traceable to source publications, sample IDs, and genomic coordinates.

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