ArticleResearch and practice in thrombosis and haemostasis2025
Genetic analysis using long-read sequencing to overcome the difficulties in
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.
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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.
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Who cites it
2 citing papers in PubMed.
- Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.Clinical genetics · 2026Article
- A long first intron of PROS1 modulates protein S expression across tissues in mice and humans.Blood advances · 2026Article
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Authors and funding
4 authors.
Funding
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Abstract
Background: Genetic defects in von Willebrand factor (VWF) can lead to von Willebrand disease (VWD). Identifying causative or modifier variants of Objectives: This study aimed to establish a long-read sequencing method using Oxford nanopore technology (ONT) to overcome difficulties associated with Methods: Genetic analyses were established using genomic DNA from a healthy donor and validated using 3 VWF disorder patient samples. Long-range (∼15 kb) polymerase chain reaction was optimized to obtain 21 amplicons covering the entire Results: The entire Conclusion: This study presents an optimal solution using ONT nanopore sequencing to identify variants in
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