Genetic & Genomic MedicineFrontiers in Molecular BiosciencesPeer-reviewed
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
Pragya Gupta, Arvinden VR, Priya Thakur…·Sivaprakash Ramalingam
This paper introduces SNAPseq, a high-throughput NGS method for detecting β-thalassemia and sickle cell disease with 100% sensitivity and specificity using noninvasive samples.
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