Journal: Frontiers in Pediatrics

Article Title: Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

doi: 10.3389/fped.2023.1199609

Figure Lengend Snippet: The general process flow, advantages and disadvantages for screening and diagnosing thalassemia using conventional, NGS and TGS approaches. Figure adapted from Suhaimi et al. . TGS, third-generation sequencing; NGS, next-generation sequencing; FBC, full blood count; PCR, polymerase chain reaction; ARMS, amplification refractory multiple sequencing; HPLC, high-performance liquid chromatography; MLPA, multiplex ligation-dependent probe amplification.

Article Snippet: In a study examining NIPD applications, Jiang et al. ( ) analyzed β-thalassemia in 13 families via TGS combined with relative haplotype dosage (RHDO) analysis using the Oxford Nanopore sequencing platform.

Techniques: Sequencing, Next-Generation Sequencing, Polymerase Chain Reaction, Amplification, High Performance Liquid Chromatography, Multiplex Assay, Ligation

Journal: Frontiers in Pediatrics

Article Title: Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

doi: 10.3389/fped.2023.1199609

Figure Lengend Snippet: Reposts using TGS in thalassemia screening and diagnosis from 2021 to 2023.

Article Snippet: In a study examining NIPD applications, Jiang et al. ( ) analyzed β-thalassemia in 13 families via TGS combined with relative haplotype dosage (RHDO) analysis using the Oxford Nanopore sequencing platform.

Techniques: Biomarker Discovery, Sequencing, Amplification, Variant Assay