Evidence map›Paper›PMID 40712995›Full record

ArticleThe Journal of molecular diagnostics : JMD2025

Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.

Shiyi Xu, Xiaomei Luo, Bing Xiao, Huili Liu, Ting Xu, Linlin Chen, Tingting Yang, Na Xu, Yanjie Fan, Wenjuan Qiu and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of molecular diagnostics : JMD, 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

15 authors.

Shiyi XuClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiaomei LuoClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Bing XiaoClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Huili LiuClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ting XuClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Linlin ChenClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Tingting YangClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Na XuClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yanjie FanClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wenjuan QiuShanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ruifang WangShanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Huiwen ZhangShanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yanru ChenDepartment of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yongguo YuClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: yuyongguo@shsmu.edu.cn.
Yu SunClinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: sunyu@xinhuamed.com.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeats (STRs) are associated with 70 genetic diseases. Because of the short read length of exome sequencing (ES), STR analysis is not routinely analyzed in clinical ES. So far, there has been limited systematic evaluation using large-scale clinical ES data to assess the diagnostic yield of pathogenic STR expansion. This study retrospectively analyzed 9580 exomes referred to our genetic laboratory between July 2019 and June 2024. The samples were divided into two groups: a genetically undiagnosed cohort (n = 4692) and a reference cohort with a low probability of carrying pathogenic STR expansions (n = 4888). An analysis pipeline was developed on the basis of the combination of multiple algorithms to analyze STRs detected in 30 known disease-related loci, achieving a precision of 54.9% and a sensitivity of 100%. STR verification by capillary electrophoresis analysis of STR confirmed 28 cases (0.6%) with pathogenic STR expansions in known disease-related loci. Fourteen of these cases (0.3%) could be explained by the STR findings, including seven neonates with DMPK expansions. The pipeline showed the potential to identity abnormal STR expansions at novel sites. In conclusion, this study demonstrates the clinical utility of ES-based STR analysis and advocates for its incorporation into the clinical ES workflow in genetic laboratories.

Indexed as

ExomeExome SequencingGenetic Diseases, InbornMicrosatellite RepeatsAlgorithmsFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleRetrospective Studies

Identifiers

PMID40712995
PMCPMC12597560

What OpenQuestion holds

Textmetadata
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.