Evidence map›Paper›PMID 40699671›Full record

ArticleCurrent issues in molecular biology2025

Secondary Findings from Exome Sequencing of a Greek Cohort.

Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou

Abstract read
In one paragraph

Article in Current issues in molecular biology, 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. 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

6 authors.

Charilaos KostoulasLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0002-0769-0257
Athanasia SesseLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0009-0003-2434-6217
Ioanna BoubaLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0003-0413-2257
Spyridon KonitsiotisDepartment of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0002-5217-1317
Sofia MarkoulaDepartment of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Ioannis GeorgiouLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0002-0308-5703

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Exome sequencing (ES) is an essential part in clinical diagnosis of hereditary disorders. However, ES can reveal secondary findings (SFs) in medically actionable genes that are not related to the patient's phenotype. In this study, we performed ES to 280 unrelated individuals of a Greek cohort and calculated the frequency of SFs in 81 ACMG SF v3.2 genes. Variants were classified using the standards and guidelines established by the American College of Medical Genetics and Genomics (ACMG). We identified 12 individuals (4.3%) who carried a pathogenic (P)/likely pathogenic (LP) variant in genes associated with dominant disorders. The variants were found in genes

Indexed as

ACMG/AMP guidelinesexome sequencinggenetic testsecondary findings

Identifiers

PMID40699671
PMCPMC12025642

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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.