Evidence map›Paper›PMID 41103673›Full record

ArticleNAR genomics and bioinformatics2025

Comparison of missing data handling methods for variant pathogenicity predictors.

Mikko Särkkä, Sami Myöhänen, Kaloyan Marinov, Inka Saarinen, Leo Lahti, Vittorio Fortino, Jussi Paananen

Abstract readComparative Study
In one paragraph

Article in NAR genomics and bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

7 authors.

Mikko SärkkäBlueprint Genetics Oy, 02150 Espoo, Finland.ORCID https://orcid.org/0000-0003-4525-4840
Sami MyöhänenBlueprint Genetics Oy, 02150 Espoo, Finland.
Kaloyan MarinovBlueprint Genetics Oy, 02150 Espoo, Finland.
Inka SaarinenBlueprint Genetics Oy, 02150 Espoo, Finland.
Leo LahtiDepartment of Computing, Faculty of Technology, University of Turku, 20014 Turku, Finland.
Vittorio FortinoDepartment of Health Sciences, School of Medicine, Institute of Biomedicine, University of Eastern Finland, 70211 Kuopio, Finland.ORCID https://orcid.org/0000-0001-8693-5285
Jussi PaananenBlueprint Genetics Oy, 02150 Espoo, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Modern clinical genetic tests utilize next-generation sequencing (NGS) approaches to comprehensively analyze genetic variants from patients. Out of millions of variants, clinically relevant variants that match the patient's phenotype must be identified accurately and rapidly. As manual evaluation is not a feasible option for meeting the speed and volume requirements of clinical genetic testing, automated solutions are needed. Various machine learning (ML), artificial intelligence (AI), and

Indexed as

Computational BiologyGenetic VariationArtificial IntelligenceHigh-Throughput Nucleotide SequencingHumansMachine LearningSoftware

Identifiers

PMID41103673
PMCPMC12526054

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.