LDS2.vcf

VCF file derived from project.NIST.hc.snps.indels.NIST7035.vcf.A disease-associated mutation in the TGFBR2 gene (see Patient 4 in PMID:30101859) was spiked into the VCF file. The file is intended to be used to test gene prioritization software.<br>

本数据集的VCF（Variant Call Format）文件源自项目NIST.hc.snps.indels.NIST7035.vcf。研究人员将转化生长因子β受体2（TGFBR2）基因上一处与疾病相关的突变（详见PMID:30101859文献中的患者4案例）人工掺入该VCF文件中。该文件旨在用于测试基因优先级排序软件。