Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.

Weilun HuangShoufang QuQiongzhen QinXu YangWanqing HanYongli LaiJiaqi ChenShihao ZhouXuexi YangWanjun Zhou

Published in: Clinical chemistry (2023)

This ONT TGS method is high-throughput, which can be used for molecular screening and genetic diagnosis of hemoglobinopathies. The strategy of multiplex long PCR is an efficient strategy for library preparation, providing a practical reference for TGS assay development.

Keyphrases

high throughput
single cell
copy number
single molecule
genome wide
gene expression
molecularly imprinted
mass spectrometry