Evidence map›Paper›PMID 40070865›Full record

ArticleBalkan journal of medical genetics : BJMG2024

Next-Generation Sequencing Infertility Panel in Turkey: First Results.

E Ikbal Atli, S Yalcintepe, E Atli, S Demir, H Gurkan

Abstract read
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2024. 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. Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025
    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

5 authors.

E Ikbal AtliTrakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.ORCID https://orcid.org/0000-0001-9003-1449
S YalcintepeTrakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.
E AtliTrakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.
S DemirTrakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.
H GurkanTrakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Male infertility is a complex pathophysiological disorder. At least 2000 genes are implicated in the etiology of male infertility, making it a very complex genetic condition. In cases of male infertility, genetic testing using next-generation sequencing (NGS) technology may be useful for diagnosis. Thus, the purpose of this investigation was to apply the diagnostic offer for genetic variant identification using an NGS panel. Methods: We developed an NGS gene panel that we used in 85 infertile male patients. The panel consisted of 132 genes exploring the genetic causes of male infertility; namely spermatogenesis failure due to single-gene mutations, central hypogonadism, androgen insensitivity syndrome, congenital hypopituitarism, and primary ciliary dyskinesia etc. Results: A total of 85 patients (85 males) between 21 year and 45 years old were included in the study group. NGS analysis had been applied in all the primary infertility cases. As a result of NGS analysis, 58 clinical variants in 28 genes were detected in 41 patients (%48.23- 41/85). Conclusion: Consequently, pre-diagnostic genes included in a custom-made NGS panel test can enhance genetic diagnostic testing and have an impact on the clinical management of male infertility.

Indexed as

Genetic causes of male infertilityMale infertilityNGS diagnosis

Identifiers

PMID40070865
PMCPMC11892938

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Registered trials

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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.