Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
10.3343/alm.2023.43.6.638
- Author:
Heerah LEE
1
;
Jung Ae LEE
;
Hyesu LEE
;
Jee-Soo LEE
;
Jung Min KO
;
Man Jin KIM
;
Moon-Woo SEONG
Author Information
1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- Publication Type:Letter to the Editor
- From:Annals of Laboratory Medicine
2023;43(6):638-641
- CountryRepublic of Korea
- Language:English