Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homozygous reference sites and no-calls based on WGS data.

Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homozygous reference sites and no-calls based on WGS data.

本数据集采用VCF与gVCF文件格式，对ClinVar数据库中的已知单核苷酸多态性（Single Nucleotide Polymorphisms, SNPs）进行基因分型，并基于全基因组测序（Whole Genome Sequencing, WGS）数据统计纯合参考位点与无呼叫位点的数量。