Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Heerah LeeJung Ae LeeHyesu LeeJee Soo LeeJung Min KoMan Jin KimMoon-Woo SeongPublished in: Annals of laboratory medicine (2023)