Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Lei WangPengfei LiuWeimin BiTeresa SimXia WangMagdalene WalkiewiczMagalie Sophie LeducLinyan MengFan XiaChristine M EngYaping YangBo YuanHongzheng Dai
Published in: Molecular genetics & genomic medicine (2021)
Our study demonstrated the contribution of UPD to the molecular diagnosis in one clinical ES cohort, thus UPD analysis should be incorporated into routine clinical ES interpretation.