Long-Molecule Sequencing

Currently, carrier testing for thalassemia requires the application of different molecular tests to provide an accurate genotype. As an alternative method, long-molecule sequencing (LMS) was evaluated on the PacBio Sequel platform for genotyping carriers of α-thalassemia or β-thalassemia. Multiplex long PCR was used to generate representative amplicons for the α (HBA1/2) and β (HBB) gene loci. Following LMS, circular consensus sequencing reads were aligned to the hg19 reference genome and variants called using FreeBayes software.

Source: Journal of Molecular Diagnostics - May 27, 2020 Category: Pathology Authors: Liangpu Xu, Aiping Mao, Hui Liu, Baoheng Gui, Kwong Wai Choy, Hailong Huang, Qian Yu, Xiaojie Zhang, Meihuan Chen, Na Lin, Lingji Chen, Jin Han, Yan Wang, Min Zhang, Xiaoyu Li, Deqin He, Yuan Lin, Jianguang Zhang, David S. Cram, Hua Cao Tags: Regular article Source Type: research