vcf file of mendelian disorders

The study utilized a comprehensive dataset comprising 151 de-identified VCF files from patients with confirmed Mendelian disorders, sourced through collaborations with clinical diagnostic laboratories.

本研究采用一套综合数据集，涵盖151份来自确诊孟德尔遗传病(Mendelian disorders)患者的去标识化VCF（Variant Call Format）文件，所有文件均通过与临床诊断实验室的合作获取。