Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V DharmadhikariRajarshi GhoshBo YuanPengfei LiuHongzheng DaiSami Al MasriJennifer ScullJennifer E PoseyAllen H JiangWeimin HeFrancesco VetriniAlicia A BraxtonPatricia WardTheodore ChiangChunjing QuShen GuChad A ShawJanice L SmithSeema LalaniPawel StankiewiczSau-Wai CheungCarlos A BacinoAnkita PatelAmy M BremanXia WangLinyan MengRui XiaoFan XiaDonna MuznyRichard A GibbsArthur L BeaudetChristine M EngJames R LupskiYaping YangWeimin BiPublished in: Genome medicine (2019)
Our clinical genomics study demonstrates that detection of PCNV/UPD through the QC array or CMA increases ES diagnostic rate, provides more precise molecular diagnosis for dominant as well as recessive traits, and enables more complete genetic diagnoses in patients with dual or multiple molecular diagnoses. Concurrent ES and CMA using an array with exonic coverage for disease genes enables most effective detection of both CNVs and SNVs and therefore is recommended especially in time-sensitive clinical situations.