PseudoRA: A Novel Pseudogene ReAligner for Detecting SBDS Variants in Shwachman–Diamond Syndrome
variants in six patients (0.7%), whereas PseudoRA detected variants in 10 patients (1.2%), representing a 1.7-fold increase in diagnostic yield. PseudoRA identified seven additional cases, including low-VAF c.183_184delinsCT variants that had been missed or misclassified when assessed using conventional analysis. All variants detected via PseudoRA showed 100% concordance with Sanger sequencing. PseudoRA demonstrated comparable sensitivity to HapICE but enabled broader detection across multiple exons. PseudoRA improves the molecular diagnosis of SDS by recovering mismapped low-VAF variants and offers a scalable solution that can be integrated into conventional clinical pipelines.
Authors
- Yu Jin Park (ORCID: https://orcid.org/0000-0002-8673-5256)
- Jung Woo Han (ORCID: https://orcid.org/0000-0001-8936-1205)
- Dongju Won (ORCID: https://orcid.org/0000-0002-0084-0216)
- Seung Min Hahn (ORCID: https://orcid.org/0000-0001-9832-6380)
- Jong Rak Choi (ORCID: https://orcid.org/0000-0002-0608-2989)
- Seung‐Tae Lee (ORCID: https://orcid.org/0000-0003-1047-1415)
- Kyunghee Yu (ORCID: https://orcid.org/0000-0002-6493-0683)
- Saeam Shin (ORCID: https://orcid.org/0000-0003-1501-3923)
- Ji Young Oh (ORCID: https://orcid.org/0000-0003-3552-8465)
Institutions
- Yonsei University (KR)
- Severance Hospital (KR)
- Yonsei University Health System (KR)
- Yonsei Cancer Hospital (KR)
- Yongin Severance Hospital (KR)
Publication Details
- Journal
- Annals of Laboratory Medicine
- Published
- 2026-10-08
- DOI
- https://doi.org/10.3343/alm.2026.0233
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00