Phenotypic compatibility and specificity in genomic variant classification.

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.

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.

Who cites it

5 citing papers in PubMed.

1. Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026
   Article
2. Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026
   Review
3. Comprehensive evaluation of ACMG/AMP-based variant classification tools.Bioinformatics (Oxford, England) · 2026
   Article
4. Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.European journal of human genetics : EJHG · 2025
   Article
5. An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Scientific data · 2025
   Article

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

1 author.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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