Evidence map›Paper›PMID 41532136›Full record

ArticleHuman mutation2026

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Xiaoqiang Zhou, Yue Chen, Shufen Chen, Jingli Lian, Yue Liu, Tingting Yang, Shuijuan Wu, Juan Liu, Xiang Huang, Xingkun Yang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Article
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

10 authors.

Xiaoqiang ZhouPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0000-0002-3780-1296
Yue ChenWomen and Children Medical Research Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0002-3062-5397
Shufen ChenPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0008-3942-7825
Jingli LianPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0001-8982-0624
Yue LiuPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0009-5051-4281
Tingting YangPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0005-4685-3492
Shuijuan WuPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0003-0103-4237
Juan LiuPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0006-8229-3741
Xiang HuangPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0009-0001-4214-1624
Xingkun YangPrenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.ORCID https://orcid.org/0000-0002-5907-8182

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: The aim of this study is to evaluate the efficacy of accurate circular consensus long-read sequencing in the detection of rare thalassemia. Methods: Conventional molecular analysis on globin genes has limitations because of the broad spectrum of genetic variants, complex genetics, and genotype-phenotype correlation. Accurate circular consensus long-read sequencing is a novel tool that detects complex variants in the thalassemia gene based on third-generation sequencing. In this study, we screen out suspected rare thalassemia carriers by hemoglobin analysis and conventional molecular analysis, and evaluate the efficacy of accurate circular consensus long-read sequencing in the detection of rare thalassemia. Results: Based on the traditional screening of thalassemia gene, an additional 16 (17.67%) cases of clinically significant variants of rare thalassemia were identified by accurate circular consensus long-read sequencing in this study, including 12-point variants and 4 deletion variants: HBB: (SEA)-HPFH, HBB: c.268_281delAGTGAGCTGCACTG, HBB: (Chinese) G Conclusion: Accurate circular consensus long-read sequencing has a promising prospect in detecting rare thalassemia gene variants and may improve the detection rate of carriers.

Indexed as

Genetic VariationHigh-Throughput Nucleotide SequencingThalassemiabeta-GlobinsGenetic Association StudiesHumansMutationSequence Analysis, DNAbeta-Globinsaccurate circular consensus long-read sequencingdiagnosisthalassemiavariant

Identifiers

PMID41532136
PMCPMC12791157

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.