Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.
Luyao RenXiaoke DuanLianhua DongRui ZhangJingcheng YangYuechen GaoRongxue PengWanwan HouYaqing LiuJingjing LiYing YuNaixin ZhangJun ShangFan LiangDepeng WangHui ChenLele SunLingtong Haonull nullAndreas SchererJessica NordlundWenming XiaoJoshua XuWeida TongXin HuPeng JiaKai YeJinming LiLi JinHuixiao HongJing WangShaohua FanXiang FangYuanting ZhengLeming ShiPublished in: Genome biology (2023)
The Quartet DNA reference materials and reference datasets provide a unique resource for objectively assessing the quality of germline variant calls throughout the whole-genome regions and improving the reliability of large-scale genomic profiling.