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Next-generation Sequencing

Next-generation Sequencing

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Updated: Aug 13, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Published on: June 23, 2012

Identification of rare thalassemia variants using third-generation sequencing.

Qin Liu¹, Qianting Chen¹, Zonglei Zhang¹

¹Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Frontiers in Genetics

|January 23, 2023

Summary

A new genetic testing method, comprehensive analysis of thalassemia alleles (CATSA), identified previously undetected thalassemia variants. This advanced approach offers significant advantages over traditional genetic analysis methods for thalassemia.

Keywords:

genetic analysis hemoglobin thalassemia third-generation sequencing variant

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Last Updated: Aug 13, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Published on: June 23, 2012

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Area of Science:

Genetics
Molecular Biology
Hematology

Background:

Traditional genetic analysis methods for thalassemia, including PCR and Sanger sequencing, have limitations in variant detection.
Accurate genetic diagnosis is crucial for effective thalassemia management and genetic counseling.

Purpose of the Study:

To evaluate a novel third-generation sequencing-based approach, comprehensive analysis of thalassemia alleles (CATSA), for genetic analysis of thalassemia.
To assess the efficacy of CATSA in identifying variants missed by conventional genetic testing methods.

Main Methods:

Evaluated 3,033 subjects using hemoglobin testing and routine PCR for common variants.
Employed Sanger sequencing and GAP-PCR for subjects negative by routine PCR.
Utilized the CATSA method for subjects negative by Sanger sequencing and GAP-PCR.

Main Results:

CATSA identified variants in 8 out of 49 subjects previously undetected by standard methods.
CATSA successfully identified Hb Lepore in Hunan Province for the first time.
Overall, CATSA identified additional variants in 8 subjects beyond the 759 found by traditional methods.

Conclusions:

The comprehensive analysis of thalassemia alleles (CATSA) method demonstrates significant advantages over conventional genetic testing techniques.
CATSA improves the diagnostic yield for thalassemia, particularly in cases with complex or undetected genetic variants.
This advanced sequencing approach enhances the genetic landscape of thalassemia diagnosis.