Article

NGS4THAL, a one-stop molecular diagnosis and carrier screening tool for thalassemia and other hemoglobinopathies by next-generation sequencing

2021-05-26

Abstract excerpt

<h4>Background: </h4> Thalassemia is one of the most common genetic diseases and a major health threat worldwide. Accurate, efficient and scalable genetic testing methodology is much needed for its molecular diagnosis and carrier screening. <h4>Results: </h4> We developed NGS4THAL, a bioinformatics analysis pipeline analyzing next generation sequencing (NGS) data to detect pathogenic variants for thalassemia and o...

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Literature Corpus work: 9edd12e6-ed0f-5f46-a897-d7f95fce5040
DOI: 10.21203/rs.3.rs-542196/v1

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