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Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Lee, Heerah; Lee, Jung Ae; Lee, Hyesu; Lee, Jee-Soo; Ko, Jung Min; Kim, Man Jin; Seong, Moon-Woo.
Affiliation
  • Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee JA; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Ko JM; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Kim MJ; Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Seong MW; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ann Lab Med ; 43(6): 638-641, 2023 11 01.
Article in En | MEDLINE | ID: mdl-37387500
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudogenes / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Ann Lab Med Year: 2023 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudogenes / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Ann Lab Med Year: 2023 Document type: Article