CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Bo YuanLei WangPengfei LiuChad ShawHongzheng DaiLance CooperWenmiao ZhuStephanie A AndersonLinyan MengXia WangYue WangFan XiaRui XiaoAlicia BraxtonSandra PeacockEric SchmittPatricia A WardFrancesco VetriniWeimin HeTheodore ChiangDonna MuznyRichard A GibbsArthur L BeaudetAmy M BremanJanice SmithSau Wai CheungCarlos A BacinoChristine M EngYaping YangJames R LupskiWeimin BiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
AR-CNVs are often smaller in size, transmitted through generations, and underrecognized due to limitations in clinical CNV detection methods. Our findings from a large clinical cohort emphasized integrated CNV and SNV/indel analyses for precise clinical and molecular diagnosis especially in the context of genomic disorders.