Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
Bohu PanLuyao RenVitor OnuchicMeijian GuanRebecca KuskoSteve BruinsmaLen TriggAndreas SchererBaitang NingChaoyang ZhangChristine Glidewell-KenneyChunlin XiaoEric DonaldsonFritz J SedlazeckGary SchrothGokhan YavasHaiying GrunenwaldHaodong ChenHeather MeinholzJoe MeehanJing WangJingcheng YangJonathan FooxJun ShangKelci MiclausLianhua DongLeming ShiMarghoob MohiyuddinMehdi PiroozniaPing GongRooz GolshaniRuss WolfingerSamir LababidiSayed Mohammad Ebrahim SahraeianSteve SherryTao HanTao ChenTieliu ShiWanwan HouWeigong GeWen ZouWenjing GuoWenjun BaoWenzhong XiaoXiaohui FanYoichi GondoYing YuYongmei ZhaoZhenqiang SuZhichao LiuWeida TongWenming XiaoJustin M ZookYuanting ZhengHuixiao HongPublished in: Genome biology (2022)
Our findings highlight sources of variability in variant detection and the need for improvement of bioinformatics pipelines in the era of precision medicine with WGS.