Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing
This study demonstrated that LRS technology had great advantages over conventional target diagnosis methods for identifying rare thalassemia variants and assisted better carrier screening and prenatal diagnosis of thalassemia.PMID:37336681 | DOI:10.1016/j.bcmd.2023.102764
Source: Blood Cells, Molecules and Diseases - Category: Hematology Authors: Jianjiang Feng Aiping Mao Ye Lu Haihong Shi Wanli Meng Chen Liang Source Type: research