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 - June 19, 2023 Category: Hematology Authors: Jianjiang Feng Aiping Mao Ye Lu Haihong Shi Wanli Meng Chen Liang Source Type: research