Evidence map›Paper›PMID 40627304›Full record

ArticleJournal of assisted reproduction and genetics2025

A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).

Qiuwen Shi, Tiantian Xie, Jianmin Li, Ning Li, Changlong Xu, Zhong Lin, Ying Huang, Ling Zhou, Aiping Mao, Jiaqi Li and 1 more

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In one paragraph

Article in Journal of assisted reproduction and genetics, 2025. 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

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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

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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. Article
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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

11 authors.

Qiuwen ShiReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Tiantian XieBerry Genomics Corporation, Beijing, 102200, China.
Jianmin LiReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Ning LiReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Changlong XuReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Zhong LinThe Reproductive Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530218, Guangxi, China.
Ying HuangReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Ling ZhouReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China.
Aiping MaoBerry Genomics Corporation, Beijing, 102200, China.
Jiaqi LiBerry Genomics Corporation, Beijing, 102200, China.
Rong LiReproductive Medicine Center, The Third Affiliated Hospital of Guangxi Medical University, Nanning, 530031, Guangxi, China. LiRong@sr.gxmu.edu.cn.ORCID http://orcid.org/0009-0002-0667-4367

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe purpose is to develop a preimplantation genetic testing (PGT) method for α-thalassemia in one reaction, without requiring a proband, using targeted long-range polymerase chain reaction (LR-PCR) followed by long-read sequencing (LRS).

methodsWe developed a targeted LRS-based PGT method for α-thalassemia (tlrPGT-α-thal). This novel approach detects both HBA-associated variants and informative linked fragments in peripheral regions by targeted LR-PCR in one reaction.

resultsA total of 115 samples, including 10 couples and 95 embryos, were subjected to this method. Available heterozygous SNPs were used to distinguish four parental haplotypes. Haplotype linkage analysis was successfully performed in all families, and the results of embryos were all consistent with control results obtained through conventional methods (next-generation sequencing, Sanger sequencing and gap-PCR). This confirmed that tlrPGT-α-thal achieved 100% sensitivity and accuracy.

conclusionThis study has demonstrated the accuracy and clinical utility of tlrPGT-α-thal. This method holds significant promise for clinical application for patients requiring PGT for α-thalassemia. Furthermore, the methodology could potentially be extended to PGT for monogenic disorders (PGT-M) in other diseases.

Indexed as

alpha-ThalassemiaGenetic TestingPreimplantation DiagnosisFemaleHaplotypesHigh-Throughput Nucleotide SequencingHumansMalePolymerase Chain ReactionPolymorphism, Single NucleotidePregnancyHaplotype linkage analysisInformative linked fragmentPreimplantation genetic testing for α-thalassemiaTargeted long-range PCRTargeted long-read sequencing

Identifiers

PMID40627304
PMCPMC12423001

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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 OpenQuestion graph.