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Issue: Vol. 567 No. 1 (2026)
Section: Các bài báo
DOI: 10.51298/vmj.v567i1.19287
Date Published: 05/11/2026
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Downloads 12
How to Cite
Dương, Q. C., Nguyễn, T. N. B., Ngô, T. H., Dương, T. U., & Trần, H. T. (2026). ESTABLISHMENT AND PRELIMINARY EVALUATION OF A NEXT-GENERATION SEQUENCING WORKFLOW FOR VWF AT THE NATIONAL INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION. Vietnam Medical Journal, 567(1). https://doi.org/10.51298/vmj.v567i1.19287

ESTABLISHMENT AND PRELIMINARY EVALUATION OF A NEXT-GENERATION SEQUENCING WORKFLOW FOR VWF AT THE NATIONAL INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION

Quốc Chính Dương1, , Thanh Ngọc Bình Nguyễn2,3, Thu Hằng Ngô2, Tố Uyên Dương2, Huy Thịnh Trần3
1 Trường Đại học Y Dược, Đại học Quốc Gia Hà Nội
2 Viện Huyết học – Truyền máu Trung ương
3 Đại học Y Hà Nội

Main Article Content

Abstract

Background: VWF genetic analysis supports molecular diagnosis and genetic counseling in von Willebrand disease. However, high homology between VWF exons 23–34 and the VWFP1 pseudogene increases the risk of read misalignment and inaccurate variant calling.


Objective: To evaluate the quality, technical performance, and concordance of a VWF next-generation sequencing workflow for detecting SNVs and small Indels.


Materials and Methods: This laboratory study included 34 DNA samples from patients with inherited VWD. All 52 VWF exons and flanking regions were enriched using an xGen capture panel, sequenced on MiSeq v3 with 2 × 150-bp paired-end reads, and analyzed using VarSome Clinical. Variant calls were compared with an independent NGS workflow.


Results: The mean reads per sample were 137,848; on-target, uniquely mapped, and duplicate read rates were 63.54%, 92.62%, and 1.51%, respectively. Mean depth was 195.5X, and 99.17% of target nucleotides reached ≥30X. Across exons 23–34, mean MAPQ was 51.23 ± 0.71; 225/2,875 bp (7.83%) had MAPQ <30, involving exons 24, 26, and 34. All 42 variants were concordant between laboratories.


Conclusion: The workflow achieved high depth, coverage, and concordance for SNVs and small Indels. Exon 26 and low-MAPQ segments in exons 24 and 34 require supplementary confirmation.

Keywords

Von Willebrand disease, VWF, next-generation sequencing, hybrid capture

Article Details

References

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