ArticleResearch and practice in thrombosis and haemostasis2025
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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
2 citing papers in PubMed.
- Molecular genetic testing in von Willebrand disease: past, present, and beyond.Haematologica · 2026Review
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing analyzes the entire Objectives: We aimed to assess the clinical impact of panel-based sequencing in all VWD patients sequenced at UZ Leuven. Methods: We conducted a single-center retrospective study of all patients with confirmed or suspected VWD who were screened with panel-based whole-exome sequencing. Presequencing diagnosis was performed using laboratory measures of VWF activity and quantity. Postsequencing diagnosis was informed by variant curation in combination with laboratory measures. We measured clinically meaningful changes in the pre- vs postgenetic sequencing diagnosis and subtyping. Results: The study included 108 patients. The population was predominantly composed of pediatric patients <18 years old (77/108; 71%) and females (66/108; 61%). The largest presequencing subgroup was those with low VWF (61/108; 56%), followed by type 1 VWD (21/108; 19%) and type 2 not otherwise specified (18/108; 17%). A clinically meaningful change in management occurred in 19% (20/108) of the study population. The largest effect was seen in the presequencing type 2 group (16/24; 67%). In the type 2 group who could not be accurately subtyped into 2A/B/M/N prior to sequencing (type 2 not otherwise specified), 15/18 (83%) were able to be subtyped or given a different diagnosis postsequencing. Conclusion: Panel-based sequencing for VWD in a well-selected cohort, particularly those with type 2 and type 3 VWD, was clinically relevant in differentiating genocopies, directing therapies, and family planning. Sequencing in those with low VWF and type 1 VWD rarely changed management.
Indexed as
Identifiers
What Socratic holds
Registered trials
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.