Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
نویسنده : Man Jin Kim , Soo Yeon Kim , , Jin Sook Lee , , Sanggoo Kang , Lae-Jeong Park , , Wooyong Choi , , Ju Yeol Jung , , Taehyung Kim , , Sung Sup Park , Jung Min Ko , Moon-Woo Seong , , and Jong Hee Chae .
تاریخ انتشار : 1402/01/11
This pilot study evaluated the possibility of rapid and timely diagnosis of treatable rare genetic diseases using a panel designed by a multidisciplinary team. The automated analytic pipeline maximized the clinical utility of rapid targeted sequencing for medically actionable genes, providing a strategy for appropriate and timely treatment of rare
genetic diseases