Evidence mapPaperPMID 41266748Full record

ArticleScientific reports2025

Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.

Aleš Maver, Peter Juvan, Urška Kotnik, Luca Lovrecic, Gaber Bergant, Borut Peterlin

Abstract read
In one paragraph

Article in Scientific reports, 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.

Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peter JuvanClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Urška KotnikClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Luca LovrecicClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Gaber BergantClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia. borut.peterlin@kclj.si.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genomic data of Central European populations is underrepresented in the publicly available databases. We present the comprehensive genomic variation of the Slovenian population, based on the genomic sequencing of 9425 non-related individuals, i.e. more than 0.44% of the Slovenian population. Over 30 million unique single nucleotide and small indel (30.8 million), copy number (217.6 thousand), and mitochondrial variants (3.3 thousand) were uncovered and annotated by analysing the whole genome of 619 individuals and the whole exome of 8806 individuals. This population variation, including 3,9 million novel variants, is presented in a publicly available genome variant browser, the SloGenVar ( https://slogenvar.si ). We used this newly developed resource to reveal the population frequency of pathogenic variants in the genes associated with recessive conditions. The Slovenian genome database and browser offer the largest and the most comprehensive publicly available Central European population genomic variant resource, providing an important asset for genomic studies and as a control variant database for variant interpretation in the region and beyond.

Indexed as

Databases, GeneticGenetic VariationGenome, HumanDNA Copy Number VariationsGenetics, PopulationGenomicsHumansPolymorphism, Single NucleotideSloveniaWeb BrowserGenome browserPopulation genomic variationSlovenian genome databaseWhole genome sequencing

Identifiers

PMID41266748
PMCPMC12635199

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.