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A next generation sequencing based universal target panel and algorithm for one stop detection of copy number alterations and single nucleotide variations in the HBB gene cluster for rapid diagnosis of β-Thalassemia

2024-12-10

Abstract excerpt

<title>Abstract</title> <p>Background This study aimed to develop and validate a targeted next-generation sequencing (NGS) panel along with a data analysis algorithm to detect single nucleotide variants (SNVs) and copy number variations (CNVs) within the beta-globin gene cluster. The goal was to reduce turnaround time (TAT) compared to conventional genotyping methods and provide a rapid, comprehensive solution f...

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Literature Corpus work: 51410325-ed4f-5ea0-9799-87409e499746
DOI: 10.21203/rs.3.rs-5407936/v1

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