Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

Affiliations

• ¹ Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ² Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ³ Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ⁴ Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.