Evidence map›Paper›PMID 40896794›Full record

ArticleHuman mutation2025

Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting

Qiaoyu Cao, Anqi Zhao, Zhoukai Long, Xinyi Wang, Chaolan Pan, Yumeng Wang, Wei He, Haisheng Huang, Fuying Chen, Chenfei Wang and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

14 authors.

Qiaoyu CaoDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.ORCID https://orcid.org/0009-0002-2902-4367
Anqi ZhaoInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0009-0003-5270-7286
Zhoukai LongShanghai We Health Biomedical Technology Co. Ltd., Shanghai, China.
Xinyi WangInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Chaolan PanInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yumeng WangInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0002-5298-3171
Wei HeDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Haisheng HuangDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Fuying ChenDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.ORCID https://orcid.org/0000-0002-7439-4845
Chenfei WangDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xiaoxiao WangInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Luming SunDepartment of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai, China.
Jingjun ZhaoInstitute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ming LiDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.ORCID https://orcid.org/0000-0003-3053-2756

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by defects in telomere biology and clinical manifestations such as nail dystrophy, skin pigmentation abnormalities, and mucosal leukoplakia. Here, using whole exome sequencing (WES), whole genome sequencing (WGS), optical mapping sequencing (OGM), third-generation sequencing, and mRNA sequencing, we diagnosed a participant with

Indexed as

Chromosome MappingDyskeratosis CongenitaHigh-Throughput Nucleotide SequencingMutagenesis, InsertionalMutation, MissenseExome SequencingHumansPedigreedyskeratosis congenitaoptical genome mappingPARN generetrotransposonsstructural variant

Identifiers

PMID40896794
PMCPMC12396913

What OpenQuestion 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 OpenQuestion graph.