Article
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD - 1 Oct 2022
Cao Yujie, Ha Shau-Yin, So Chi-Chiu, Tong Ming-For Tony, Tang Clara Sze-Man, Zhang Huoru, Liang Rui, Yang Jing, Chung Brian Hon-Yin, Chan Godfrey Chi-Fung, Lau Yu Lung, Garcia-Barcelo Maria-Mercè, Ma Edmond Shiu-Kwan, Sucharitchan Pranee, Hirankarn Nattiya, Yang Wanling
Abstract excerpt
Thalassemia is one of the most common genetic diseases and a major health threat worldwide. Accurate, efficient, and scalable analysis of next-generation sequencing (NGS) data is much needed for its molecular diagnosis and carrier screening. We developed NGS4THAL, a bioinformatics analysis pipeline analyzing NGS data to detect pathogenic variants for thalassemia and other hemoglobinopathies. NGS4THAL realigns...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.