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, 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 Lata Jain, Vivek Gupta, , 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.
Frontiers in Molecular Biosciences · Dec 13, 2023Peer-reviewedGenetic & Genomic Medicine