Evidence map›Paper›PMID 41608324›Full record

ReviewFrontiers in pediatrics2025

Current research status of third-generation sequencing technology in thalassemia detection.

Fenglin Zhu, Yunli Lai, Sheng He

Abstract readReview
In one paragraph

Review in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Fenglin ZhuGraduate School, Guangxi University of Chinese Medicine, Nanning, China.
Yunli LaiGuangxi Clinical Medical Research Center for Birth Defects, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention and Control, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, China.
Sheng HeGuangxi Clinical Medical Research Center for Birth Defects, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention and Control, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thalassemia is a hereditary hemolytic disorder primarily caused by defects in the hemoglobin genes, which impede the synthesis of hemoglobin peptide chains. This disease is mainly classified into two types: α and β. Currently, there is no effective treatment available that can completely cure this disease. The conventional screening techniques for thalassemia currently used in clinical practice have significant shortcomings, posing risks of missed diagnoses and misdiagnoses. As a molecular detection technology that has emerged in recent years, third-generation sequencing can specifically address the shortcomings of conventional detection methods, enhance the positive detection rate for novel thalassemia variants, and demonstrate broad application prospects. However, it remains in the stage of technical exploration and refinement. This review aims to systematically organize and thoroughly analyze relevant research literature on the application of third-generation sequencing technology in thalassemia detection. It seeks to comprehensively understand the current status of utilization of this technology in thalassemia research, thereby fully leveraging its technical advantages to support the prevention, control, and management of thalassemia.

Indexed as

clinical applicationsgenetic testinglong-read sequencingnanopore sequencingsingle-molecule real-time sequencingthalassemiathird-generation sequencing

Identifiers

PMID41608324
PMCPMC12835799

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.