Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform

Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform

β-hemoglobinopathies such as β-thalassemia (BT) and Sickle cell disease (SCD) are inherited monogenic blood disorders with significant global burden. Hence, early and affordable diagnosis can alleviate morbidity and reduce mortality given the lack of effective cure. Currently, Sanger sequencing is c...

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Bibliographic Details
Main Authors: Pragya Gupta, V. R. Arvinden, Priya Thakur, Rahul C. Bhoyar, Vinodh Saravanakumar, Narendra Varma Gottumukkala, Sangam Giri Goswami, Mehwish Nafiz, Aditya Ramdas Iyer, Harie Vignesh, Rajat Soni, Nupur Bhargava, Padma Gunda, Suman Jain, Vivek Gupta, Sridhar Sivasubbu, Vinod Scaria, Sivaprakash Ramalingam
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Molecular Biosciences
Subjects:
β-thalassemia
sickle cell disease
β-hemoglobinopathies
high-throughput amplicon sequencing
next-generation sequencing
molecular diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1244244/full

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